Total submissions: 1775
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Developmental Genetics Unit, |
RCV000171541 | SCV000221740 | likely pathogenic | not provided | criteria provided, single submitter | research | ||
| Dobyns Lab, |
RCV000191932 | SCV000246158 | pathogenic | Poretti-Boltshauser syndrome | 2014-11-25 | criteria provided, single submitter | research | |
| Gene |
RCV000197797 | SCV000252071 | likely benign | not specified | 2012-12-04 | criteria provided, single submitter | clinical testing | The variant is found in MITONUC-MITOP panel(s). |
| Gene |
RCV000199743 | SCV000252072 | likely benign | not specified | 2013-05-05 | criteria provided, single submitter | clinical testing | The variant is found in MITONUC-MITOP panel(s). |
| Gene |
RCV000199963 | SCV000252075 | uncertain significance | not specified | 2014-10-20 | criteria provided, single submitter | clinical testing | The L169V variant of unknown significance has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The L169V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids similar to Leucine are conserved across species. In silico analysis predicts this variant likely does not alter the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in MITONUC-MITOP panel(s). |
| Invitae | RCV000199878 | SCV000253761 | pathogenic | Hereditary cutaneous melanoma | 2017-01-16 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the CDKN2A gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Loss-of-function variants in CDKN2A are known to be pathogenic. Whole-gene deletions have been reported to segregate with melanoma and nervous system tumors in two independent families (PMID: 9622062). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000197635 | SCV000253897 | pathogenic | Familial cancer of breast | 2016-07-01 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the CHEK2 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. While this particular variant has not been reported in the literature, truncating variants in CHEK2 are known to be pathogenic (PMID: 21876083, 24713400). For these reasons, this variant has been classified as Pathogenic. |
| Shaikh Laboratory, |
RCV000208701 | SCV000255631 | likely pathogenic | not provided | 2015-10-22 | criteria provided, single submitter | research | Mode of Inheritance: Other-Haploinsuficiency |
| Lupski Lab, |
RCV000202645 | SCV000256747 | pathogenic | CHARGE association | 2013-12-01 | criteria provided, single submitter | research | Pathogenic based on a complex genomic rearrangement resulting in deletion of exon 7 of CHD7 in an 8-year-old female with a clinical phenotype consistent with CHARGE (Tetralogy of Fallot, retinal colobomas, sensorineural hearing loss, choanal atresia). |
| Lupski Lab, |
RCV000203260 | SCV000256750 | pathogenic | Charcot-Marie-Tooth disease, type 4D | 2013-05-21 | criteria provided, single submitter | research | NDRG1 is a known gene causing recessive CMT4D. This study showed a homozygous intragenic duplication in NDRG1. |
| Lupski Lab, |
RCV000210429 | SCV000256763 | pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive | 2014-07-16 | criteria provided, single submitter | research | segregates with the phenotype in an affected family |
| Oxford Medical Genetics Laboratories, |
RCV000210049 | SCV000257461 | pathogenic | Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive | 2015-08-25 | criteria provided, single submitter | clinical testing | |
| Lupski Lab, |
RCV000203452 | SCV000258328 | pathogenic | Spastic paraplegia 4, autosomal dominant | 2014-08-07 | criteria provided, single submitter | research | |
| Lupski Lab, |
RCV000203475 | SCV000258329 | pathogenic | Spastic paraplegia 4, autosomal dominant | 2014-08-07 | criteria provided, single submitter | research | |
| Lupski Lab, |
RCV000203496 | SCV000258330 | pathogenic | Spastic paraplegia 4, autosomal dominant | 2014-08-07 | criteria provided, single submitter | research | |
| Lupski Lab, |
RCV000203458 | SCV000258331 | pathogenic | Spastic paraplegia 4, autosomal dominant | 2014-08-07 | criteria provided, single submitter | research | |
| Lupski Lab, |
RCV000203474 | SCV000258332 | pathogenic | Spastic paraplegia 4, autosomal dominant | 2014-08-07 | criteria provided, single submitter | research | |
| Lupski Lab, |
RCV000203463 | SCV000258334 | pathogenic | Spastic paraplegia 4, autosomal dominant | 2014-08-07 | criteria provided, single submitter | research | |
| Lupski Lab, |
RCV000203486 | SCV000258335 | pathogenic | Spastic paraplegia 4, autosomal dominant | 2014-08-07 | criteria provided, single submitter | research | |
| Lupski Lab, |
RCV000203493 | SCV000258336 | pathogenic | Spastic paraplegia 4, autosomal dominant | 2014-08-07 | criteria provided, single submitter | research | |
| Lupski Lab, |
RCV000203462 | SCV000258337 | pathogenic | Spastic paraplegia 4, autosomal dominant | 2014-08-07 | criteria provided, single submitter | research | |
| Lupski Lab, |
RCV000203484 | SCV000258338 | pathogenic | Spastic paraplegia 4, autosomal dominant | 2014-08-07 | criteria provided, single submitter | research | |
| Lupski Lab, |
RCV000203447 | SCV000258339 | pathogenic | Spastic paraplegia 4, autosomal dominant | 2014-08-07 | criteria provided, single submitter | research | |
| Lupski Lab, |
RCV000203468 | SCV000258340 | pathogenic | Spastic paraplegia 4, autosomal dominant | 2014-08-07 | criteria provided, single submitter | research | |
| Lupski Lab, |
RCV000203483 | SCV000258341 | pathogenic | Spastic paraplegia 4, autosomal dominant | 2014-08-07 | criteria provided, single submitter | research | |
| Lupski Lab, |
RCV000203451 | SCV000258342 | pathogenic | Spastic paraplegia 4, autosomal dominant | 2014-08-07 | criteria provided, single submitter | research | |
| Lupski Lab, |
RCV000203466 | SCV000258343 | pathogenic | Spastic paraplegia 4, autosomal dominant | 2014-08-07 | criteria provided, single submitter | research | |
| Lupski Lab, |
RCV000203489 | SCV000258344 | pathogenic | Spastic paraplegia 4, autosomal dominant | 2014-08-07 | criteria provided, single submitter | research | |
| Lupski Lab, |
RCV000203456 | SCV000258345 | pathogenic | Spastic paraplegia 4, autosomal dominant | 2014-08-07 | criteria provided, single submitter | research | |
| Lupski Lab, |
RCV000203472 | SCV000258346 | pathogenic | Spastic paraplegia 4, autosomal dominant | 2014-08-07 | criteria provided, single submitter | research | |
| Lupski Lab, |
RCV000203487 | SCV000258347 | pathogenic | Spastic paraplegia 4, autosomal dominant | 2014-08-07 | criteria provided, single submitter | research | |
| Lupski Lab, |
RCV000203478 | SCV000258349 | pathogenic | Spastic paraplegia 4, autosomal dominant | 2014-08-07 | criteria provided, single submitter | research | |
| Lupski Lab, |
RCV000203499 | SCV000258350 | pathogenic | Spastic paraplegia 4, autosomal dominant | 2014-08-07 | criteria provided, single submitter | research | |
| Lupski Lab, |
RCV000203453 | SCV000258351 | pathogenic | Spastic paraplegia 4, autosomal dominant | 2014-08-07 | criteria provided, single submitter | research | |
| Lupski Lab, |
RCV000203476 | SCV000258352 | pathogenic | Spastic paraplegia 4, autosomal dominant | 2014-08-07 | criteria provided, single submitter | research | |
| Lupski Lab, |
RCV000203497 | SCV000258353 | pathogenic | Spastic paraplegia 4, autosomal dominant | 2014-08-07 | criteria provided, single submitter | research | |
| Lupski Lab, |
RCV000203460 | SCV000258354 | pathogenic | Spastic paraplegia 4, autosomal dominant | 2014-08-07 | criteria provided, single submitter | research | |
| Lupski Lab, |
RCV000203481 | SCV000258355 | pathogenic | Spastic paraplegia 4, autosomal dominant | 2014-08-07 | criteria provided, single submitter | research | |
| Lupski Lab, |
RCV000203495 | SCV000258356 | pathogenic | Spastic paraplegia 4, autosomal dominant | 2014-08-07 | criteria provided, single submitter | research | |
| Lupski Lab, |
RCV000203464 | SCV000258357 | pathogenic | Spastic paraplegia 4, autosomal dominant | 2014-08-07 | criteria provided, single submitter | research | |
| Lupski Lab, |
RCV000203480 | SCV000258358 | pathogenic | Spastic paraplegia 4, autosomal dominant | 2014-08-07 | criteria provided, single submitter | research | |
| Lupski Lab, |
RCV000203449 | SCV000258359 | pathogenic | Spastic paraplegia 4, autosomal dominant | 2014-08-07 | criteria provided, single submitter | research | |
| Lupski Lab, |
RCV000203485 | SCV000258361 | pathogenic | Spastic paraplegia 4, autosomal dominant | 2014-08-07 | criteria provided, single submitter | research | |
| Lupski Lab, |
RCV000203448 | SCV000258362 | pathogenic | Spastic paraplegia 4, autosomal dominant | 2014-08-07 | criteria provided, single submitter | research | |
| Lupski Lab, |
RCV000203469 | SCV000258363 | pathogenic | Spastic paraplegia 4, autosomal dominant | 2014-08-07 | criteria provided, single submitter | research | |
| Lupski Lab, |
RCV000203491 | SCV000258364 | pathogenic | Spastic paraplegia 4, autosomal dominant | 2014-08-07 | criteria provided, single submitter | research | |
| Lupski Lab, |
RCV000203459 | SCV000258365 | pathogenic | Spastic paraplegia 4, autosomal dominant | 2014-08-07 | criteria provided, single submitter | research | |
| Lupski Lab, |
RCV000203467 | SCV000258366 | pathogenic | Spastic paraplegia 4, autosomal dominant | 2014-08-07 | criteria provided, single submitter | research | |
| Lupski Lab, |
RCV000203490 | SCV000258367 | pathogenic | Spastic paraplegia 4, autosomal dominant | 2014-08-07 | criteria provided, single submitter | research | |
| Lupski Lab, |
RCV000203457 | SCV000258368 | pathogenic | Spastic paraplegia 4, autosomal dominant | 2014-08-07 | criteria provided, single submitter | research | |
| Lupski Lab, |
RCV000203473 | SCV000258369 | pathogenic | Spastic paraplegia 4, autosomal dominant | 2014-08-07 | criteria provided, single submitter | research | |
| Lupski Lab, |
RCV000203488 | SCV000258370 | pathogenic | Spastic paraplegia 4, autosomal dominant | 2014-08-07 | criteria provided, single submitter | research | |
| Lupski Lab, |
RCV000203455 | SCV000258371 | pathogenic | Spastic paraplegia 4, autosomal dominant | 2014-08-07 | criteria provided, single submitter | research | |
| Lupski Lab, |
RCV000203479 | SCV000258372 | pathogenic | Spastic paraplegia 4, autosomal dominant | 2014-08-07 | criteria provided, single submitter | research | |
| Lupski Lab, |
RCV000203492 | SCV000258373 | pathogenic | Spastic paraplegia 4, autosomal dominant | 2014-08-07 | criteria provided, single submitter | research | |
| Lupski Lab, |
RCV000203477 | SCV000258375 | pathogenic | Spastic paraplegia 4, autosomal dominant | 2014-08-07 | criteria provided, single submitter | research | |
| Lupski Lab, |
RCV000203498 | SCV000258376 | pathogenic | Spastic paraplegia 4, autosomal dominant | 2014-08-07 | criteria provided, single submitter | research | |
| Lupski Lab, |
RCV000203289 | SCV000258388 | likely pathogenic | Bosch-Boonstra-Schaaf optic atrophy syndrome | 2014-02-06 | criteria provided, single submitter | research | |
| Lupski Lab, |
RCV000203294 | SCV000258389 | likely pathogenic | Bosch-Boonstra-Schaaf optic atrophy syndrome | 2014-02-06 | criteria provided, single submitter | research | |
| Baylor Genetics | RCV000240814 | SCV000258399 | pathogenic | Cholestasis, progressive familial intrahepatic 1 | 2015-12-17 | criteria provided, single submitter | clinical testing | This variant was found in compound heterozygous status with another pathogenic insertion variant in two affected members of a Caucasian family |
| Lupski Lab, |
RCV000210394 | SCV000258457 | pathogenic | Chromosome 17p13.1 deletion syndrome | 2015-11-06 | criteria provided, single submitter | research | |
| Lupski Lab, |
RCV000210404 | SCV000258458 | pathogenic | Chromosome 17p13.1 deletion syndrome | 2015-11-06 | criteria provided, single submitter | research | |
| Lupski Lab, |
RCV000210387 | SCV000258459 | pathogenic | Chromosome 17p13.1 deletion syndrome | 2015-11-06 | criteria provided, single submitter | research | |
| Lupski Lab, |
RCV000210397 | SCV000258460 | pathogenic | Chromosome 17p13.1 deletion syndrome | 2015-11-06 | criteria provided, single submitter | research | |
| Ludwig Lab, |
RCV000417195 | SCV000262654 | likely pathogenic | Currarino triad | criteria provided, single submitter | research | Large de novo duplication in a patient with negative family history. | |
| Elsea Laboratory, |
RCV000455872 | SCV000264470 | pathogenic | MBD5 associated neurodevelopmental disorder | 2012-10-01 | criteria provided, single submitter | research | |
| Elsea Laboratory, |
RCV000454803 | SCV000264471 | pathogenic | MBD5 associated neurodevelopmental disorder | 2012-10-01 | criteria provided, single submitter | research | |
| Elsea Laboratory, |
RCV000455222 | SCV000264472 | pathogenic | MBD5 associated neurodevelopmental disorder | 2012-10-01 | criteria provided, single submitter | research | |
| Elsea Laboratory, |
RCV000455812 | SCV000264473 | pathogenic | MBD5 associated neurodevelopmental disorder | 2012-10-01 | criteria provided, single submitter | research | |
| Elsea Laboratory, |
RCV000454759 | SCV000264474 | pathogenic | MBD5 associated neurodevelopmental disorder | 2012-10-01 | criteria provided, single submitter | research | |
| Elsea Laboratory, |
RCV000477897 | SCV000264477 | pathogenic | MBD5 associated neurodevelopmental disorder | 2012-10-01 | criteria provided, single submitter | research | |
| Elsea Laboratory, |
RCV000454618 | SCV000264478 | pathogenic | MBD5 associated neurodevelopmental disorder | 2012-10-01 | criteria provided, single submitter | research | |
| Elsea Laboratory, |
RCV000477751 | SCV000264479 | pathogenic | MBD5 associated neurodevelopmental disorder | 2012-10-01 | criteria provided, single submitter | research | |
| Elsea Laboratory, |
RCV000455254 | SCV000264480 | pathogenic | MBD5 associated neurodevelopmental disorder | 2012-10-01 | criteria provided, single submitter | research | |
| Lupski Lab, |
RCV000210384 | SCV000266398 | pathogenic | Immunodeficiency 23 | 2014-07-03 | criteria provided, single submitter | research | segregates with the phenotype in an affected family |
| Baylor- |
RCV000210452 | SCV000266536 | pathogenic | Loeys-Dietz syndrome 4 | criteria provided, single submitter | research | ||
| Baylor- |
RCV000210464 | SCV000266537 | pathogenic | Loeys-Dietz syndrome 4 | criteria provided, single submitter | research | ||
| Clinical Genetics, |
RCV000416719 | SCV000266743 | pathogenic | Abnormality of esophagus morphology | 2015-12-15 | criteria provided, single submitter | research | |
| Invitae | RCV000210509 | SCV000266799 | pathogenic | Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome | 2016-10-22 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the VHL gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Deletions of the entire VHL gene have been reported in multiple individuals and families with von Hippel-Lindau disease (PMID: 10830910, 10567493, 8634692, 17537157, 20567917). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000210514 | SCV000266808 | pathogenic | Hereditary breast and ovarian cancer syndrome | 2016-11-06 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the BRCA1 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Loss-of-function variants in BRCA1 are known to be pathogenic. Gross deletions of the BRCA1 gene have been reported in families and individuals affected with breast/ovarian cancer (PMID: 17661172, 21989022, 22762150). For these reasons, this variant has been classified as Pathogenic. |
| Lupski Lab, |
RCV000488894 | SCV000267603 | pathogenic | not provided | 2016-04-26 | criteria provided, single submitter | research | compound heterozygous deletion identified in patient with congenital cataract, seizures, cerebellar and brainstem hypoplasia |
| Lupski Lab, |
RCV000488906 | SCV000267604 | pathogenic | not provided | 2016-04-26 | criteria provided, single submitter | research | compound heterozygous deletion identified in patient with congenital cataract, seizures, cerebellar and brainstem hypoplasia |
| Lupski Lab, |
RCV000210994 | SCV000267676 | likely pathogenic | Stargardt disease 1 | criteria provided, single submitter | research | identified in compound heterozygous state in affected individual/s with macular isease | |
| Center for Pediatric Genomic Medicine, |
RCV000224569 | SCV000281025 | uncertain significance | not provided | 2015-12-22 | criteria provided, single submitter | clinical testing | Converted during submission to Uncertain significance. |
| Geschwind lab, |
RCV000225569 | SCV000282087 | pathogenic | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225670 | SCV000282088 | pathogenic | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225439 | SCV000282089 | pathogenic | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225548 | SCV000282090 | uncertain significance | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225681 | SCV000282091 | pathogenic | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225457 | SCV000282092 | pathogenic | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225542 | SCV000282093 | pathogenic | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225679 | SCV000282094 | likely pathogenic | Autism spectrum disorder | criteria provided, single submitter | research | ||
| Geschwind lab, |
RCV000225451 | SCV000282095 | likely pathogenic | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225595 | SCV000282096 | pathogenic | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225368 | SCV000282097 | pathogenic | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225469 | SCV000282098 | pathogenic | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225572 | SCV000282099 | pathogenic | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225402 | SCV000282100 | pathogenic | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225508 | SCV000282101 | pathogenic | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225645 | SCV000282102 | pathogenic | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225379 | SCV000282103 | uncertain significance | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225522 | SCV000282104 | pathogenic | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225625 | SCV000282105 | pathogenic | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | The CNV is pathogenic but didn’t cause the disorder in this individual due to incomplete penetrance. |
| Geschwind lab, |
RCV000225436 | SCV000282106 | likely pathogenic | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225546 | SCV000282107 | pathogenic | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225619 | SCV000282108 | pathogenic | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225434 | SCV000282109 | pathogenic | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225539 | SCV000282110 | pathogenic | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225676 | SCV000282111 | pathogenic | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225448 | SCV000282112 | uncertain significance | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225559 | SCV000282113 | uncertain significance | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225649 | SCV000282114 | uncertain significance | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225471 | SCV000282115 | uncertain significance | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225587 | SCV000282116 | uncertain significance | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225404 | SCV000282117 | uncertain significance | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225463 | SCV000282118 | uncertain significance | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225607 | SCV000282119 | association | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225377 | SCV000282120 | association | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225525 | SCV000282121 | association | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225621 | SCV000282122 | association | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225398 | SCV000282123 | uncertain significance | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225516 | SCV000282124 | uncertain significance | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225620 | SCV000282125 | uncertain significance | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225430 | SCV000282126 | uncertain significance | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225540 | SCV000282127 | uncertain significance | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225633 | SCV000282128 | uncertain significance | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225410 | SCV000282129 | uncertain significance | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225556 | SCV000282130 | uncertain significance | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225671 | SCV000282131 | uncertain significance | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225446 | SCV000282132 | uncertain significance | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225549 | SCV000282133 | uncertain significance | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225687 | SCV000282134 | uncertain significance | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225459 | SCV000282135 | uncertain significance | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225604 | SCV000282136 | uncertain significance | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225659 | SCV000282137 | uncertain significance | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | The CNV is pathogenic but didn’t cause the disorder in this individual due to incomplete penetrance. |
| Geschwind lab, |
RCV000225479 | SCV000282138 | uncertain significance | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225596 | SCV000282139 | uncertain significance | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225373 | SCV000282140 | uncertain significance | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225512 | SCV000282141 | uncertain significance | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225576 | SCV000282142 | uncertain significance | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225386 | SCV000282143 | uncertain significance | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225492 | SCV000282144 | uncertain significance | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225630 | SCV000282145 | uncertain significance | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225408 | SCV000282146 | uncertain significance | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | The CNV is pathogenic but didn’t cause the disorder in this individual due to incomplete penetrance. |
| Geschwind lab, |
RCV000225528 | SCV000282147 | uncertain significance | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | The CNV is pathogenic but didn’t cause the disorder in this individual due to incomplete penetrance. |
| Geschwind lab, |
RCV000225629 | SCV000282148 | uncertain significance | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225442 | SCV000282149 | uncertain significance | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225550 | SCV000282150 | uncertain significance | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225685 | SCV000282151 | uncertain significance | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225421 | SCV000282158 | pathogenic | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225563 | SCV000282159 | pathogenic | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225663 | SCV000282160 | pathogenic | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225455 | SCV000282161 | pathogenic | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225599 | SCV000282162 | pathogenic | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225655 | SCV000282163 | pathogenic | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225476 | SCV000282164 | pathogenic | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225574 | SCV000282165 | pathogenic | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225391 | SCV000282166 | pathogenic | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225489 | SCV000282167 | likely pathogenic | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225609 | SCV000282168 | pathogenic | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225382 | SCV000282169 | pathogenic | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225526 | SCV000282170 | uncertain significance | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225626 | SCV000282171 | uncertain significance | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225438 | SCV000282172 | uncertain significance | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225497 | SCV000282173 | association | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225644 | SCV000282174 | association | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225420 | SCV000282175 | association | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225541 | SCV000282176 | association | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225635 | SCV000282177 | uncertain significance | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225416 | SCV000282178 | uncertain significance | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225562 | SCV000282179 | uncertain significance | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225652 | SCV000282180 | uncertain significance | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225468 | SCV000282181 | uncertain significance | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225537 | SCV000282182 | uncertain significance | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225674 | SCV000282183 | uncertain significance | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225465 | SCV000282184 | uncertain significance | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225606 | SCV000282185 | uncertain significance | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225383 | SCV000282186 | uncertain significance | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Geschwind lab, |
RCV000225486 | SCV000282187 | uncertain significance | Autism spectrum disorder | 2015-10-12 | criteria provided, single submitter | research | |
| Lupski Lab, |
RCV000234859 | SCV000291989 | pathogenic | MECP2 duplication syndrome | 2015-03-13 | criteria provided, single submitter | research | |
| Lupski Lab, |
RCV000234878 | SCV000291990 | pathogenic | MECP2 duplication syndrome | 2015-03-13 | criteria provided, single submitter | research | |
| Lupski Lab, |
RCV000234882 | SCV000291993 | pathogenic | Blepharophimosis; Absent speech; Thick lower lip vermilion; Thin upper lip vermilion; Long eyelashes; Intellectual disability, moderate | 2014-03-27 | criteria provided, single submitter | clinical testing | |
| Lupski Lab, |
RCV000235056 | SCV000292303 | pathogenic | Spondylocostal dysostosis 5 | 2015-11-15 | criteria provided, single submitter | research | This variant was observed in 17 individuals with vertebral malformations and rib abnormalities. In each case it was found to be in trans with a high-risk TBX6 haplotype, T-C-A (rs2289292, rs3809624, rs3809627). |
| Lupski Lab, |
RCV000235073 | SCV000292310 | likely pathogenic | Progressive myoclonus epilepsy with ataxia | 2015-09-17 | criteria provided, single submitter | research | This deletion was identified in a patient with seizures and neuropathy. There was no evidence of the deletion in parental samples, indicating that the CNV likely arose de novo in the patient. There are reports in the literature of heterozygous mutations in PRICKLE1 in patients with seizures (PMID: 21276947). The patient also has a de novo heterozygous variant in MFN2. |
| Lupski Lab, |
RCV000235059 | SCV000292312 | likely pathogenic | Charcot-Marie-Tooth disease, demyelinating, type 1b | 2015-09-17 | criteria provided, single submitter | research | This duplication was identified in a patient with peripheral neuropathy. There is a report in the literature of MPZ duplication in an individual with peripheral neuropathy (PMID:21787890). |
| Lupski Lab, |
RCV000235046 | SCV000292314 | uncertain significance | Peripheral neuropathy | 2015-09-17 | criteria provided, single submitter | research | This deletion was identified in an individual with peripheral neuropathy. There is no association in the literature between KIF24 and neuropathy. This individual also has an MFN2 pathogenic variant. |
| Lupski Lab, |
RCV000235057 | SCV000292315 | likely pathogenic | Charcot-Marie-Tooth disease, demyelinating, type 1b | 2015-09-17 | criteria provided, single submitter | research | This deletion was identified in an individual with peripheral neuropathy. |
| Lupski Lab, |
RCV000235042 | SCV000292317 | pathogenic | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | 2015-11-12 | criteria provided, single submitter | research | |
| Lupski Lab, |
RCV000235066 | SCV000292340 | pathogenic | Chromosome Xq26.3 duplication syndrome | 2015-11-12 | criteria provided, single submitter | research | XLAG is a newly described condition, which is rare and the phenotype is incompletely characterized, particularly in terms of clinical responses to treatment. The aim of this study was to clinically characterize X-LAG in an expanded cohort of 18 affected patients. |
| Lupski Lab, |
RCV000235052 | SCV000292363 | pathogenic | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | 2015-08-18 | criteria provided, single submitter | research | This copy number variation has been previously reported as disease-causing and was identified in a family with PHARC. |
| Clinical Cytogenomics Laboratory, |
RCV000258805 | SCV000328543 | pathogenic | See cases | 2016-09-20 | criteria provided, single submitter | clinical testing | Trisomy 12 present in 25% of cells |
| EGL Genetic Diagnostics, |
RCV000318149 | SCV000334678 | uncertain significance | not provided | 2015-08-27 | criteria provided, single submitter | clinical testing | |
| EGL Genetic Diagnostics, |
RCV000273531 | SCV000335444 | uncertain significance | not provided | 2015-09-15 | criteria provided, single submitter | clinical testing | |
| EGL Genetic Diagnostics, |
RCV000283623 | SCV000335875 | uncertain significance | not provided | 2015-09-28 | criteria provided, single submitter | clinical testing | |
| EGL Genetic Diagnostics, |
RCV000337319 | SCV000336997 | likely pathogenic | not provided | 2015-10-26 | criteria provided, single submitter | clinical testing | |
| EGL Genetic Diagnostics, |
RCV000349357 | SCV000340741 | uncertain significance | not provided | 2016-04-15 | criteria provided, single submitter | clinical testing | |
| EGL Genetic Diagnostics, |
RCV000299738 | SCV000341602 | uncertain significance | not provided | 2016-05-09 | criteria provided, single submitter | clinical testing | |
| EGL Genetic Diagnostics, |
RCV000278127 | SCV000341988 | uncertain significance | not provided | 2016-05-10 | criteria provided, single submitter | clinical testing | |
| EGL Genetic Diagnostics, |
RCV000340414 | SCV000343758 | uncertain significance | not provided | 2016-07-12 | criteria provided, single submitter | clinical testing | |
| Illumina Clinical Services Laboratory, |
RCV000393096 | SCV000483466 | likely benign | Myopathy, distal, 1 | 2016-06-14 | criteria provided, single submitter | clinical testing | |
| Illumina Clinical Services Laboratory, |
RCV000304800 | SCV000483467 | likely benign | Myosin storage myopathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
| Illumina Clinical Services Laboratory, |
RCV000341222 | SCV000483468 | likely benign | Scapuloperoneal myopathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
| Illumina Clinical Services Laboratory, |
RCV000393119 | SCV000483469 | likely benign | Left ventricular noncompaction cardiomyopathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
| Illumina Clinical Services Laboratory, |
RCV000310759 | SCV000483470 | likely benign | Dilated Cardiomyopathy, Dominant | 2016-06-14 | criteria provided, single submitter | clinical testing | |
| Illumina Clinical Services Laboratory, |
RCV000365436 | SCV000483471 | likely benign | Hypertrophic cardiomyopathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
| Illumina Clinical Services Laboratory, |
RCV000261807 | SCV000483973 | likely benign | Myosclerosis | 2016-06-14 | criteria provided, single submitter | clinical testing | |
| Illumina Clinical Services Laboratory, |
RCV000330899 | SCV000483974 | likely benign | Collagen VI-related myopathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
| Illumina Clinical Services Laboratory, |
RCV000285741 | SCV000484314 | benign | Birk-Barel Intellectual Disability Dysmorphism Syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
| Robarts Research Institute, |
RCV000408813 | SCV000484813 | likely pathogenic | Familial hypercholesterolemia 1 | criteria provided, single submitter | clinical testing | ||
| Consortium of Investigators of Modifiers of BRCA1/2 |
RCV000414385 | SCV000490158 | pathogenic | Breast-ovarian cancer, familial 2 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
| Consortium of Investigators of Modifiers of BRCA1/2 |
RCV000413848 | SCV000490160 | pathogenic | Breast-ovarian cancer, familial 1 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
| Consortium of Investigators of Modifiers of BRCA1/2 |
RCV000413941 | SCV000490163 | pathogenic | Breast-ovarian cancer, familial 1 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
| Consortium of Investigators of Modifiers of BRCA1/2 |
RCV000414056 | SCV000490166 | pathogenic | Breast-ovarian cancer, familial 1 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
| Consortium of Investigators of Modifiers of BRCA1/2 |
RCV000414677 | SCV000490167 | pathogenic | Breast-ovarian cancer, familial 1 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
| Consortium of Investigators of Modifiers of BRCA1/2 |
RCV000413276 | SCV000490168 | pathogenic | Breast-ovarian cancer, familial 1 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
| Consortium of Investigators of Modifiers of BRCA1/2 |
RCV000414143 | SCV000490169 | pathogenic | Breast-ovarian cancer, familial 1 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
| Consortium of Investigators of Modifiers of BRCA1/2 |
RCV000412747 | SCV000490170 | pathogenic | Breast-ovarian cancer, familial 1 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
| Consortium of Investigators of Modifiers of BRCA1/2 |
RCV000414007 | SCV000490172 | pathogenic | Breast-ovarian cancer, familial 1 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
| Consortium of Investigators of Modifiers of BRCA1/2 |
RCV000413482 | SCV000490174 | pathogenic | Breast-ovarian cancer, familial 1 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
| Consortium of Investigators of Modifiers of BRCA1/2 |
RCV000414360 | SCV000490175 | pathogenic | Breast-ovarian cancer, familial 1 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
| Consortium of Investigators of Modifiers of BRCA1/2 |
RCV000413209 | SCV000490176 | pathogenic | Breast-ovarian cancer, familial 1 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
| Consortium of Investigators of Modifiers of BRCA1/2 |
RCV000413580 | SCV000490177 | pathogenic | Breast-ovarian cancer, familial 1 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
| Centre for Mendelian Genomics, |
RCV000414960 | SCV000492733 | pathogenic | Renal cyst; Pancreatic cysts | 2015-09-23 | criteria provided, single submitter | clinical testing | |
| Lupski Lab, |
RCV000415472 | SCV000493131 | likely pathogenic | Chromosome Xq26.3 duplication syndrome | 2016-01-01 | criteria provided, single submitter | research | |
| Lupski Lab, |
RCV000415468 | SCV000493132 | likely pathogenic | Chromosome Xq26.3 duplication syndrome | 2016-01-01 | criteria provided, single submitter | research | |
| Lupski Lab, |
RCV000415470 | SCV000493133 | likely pathogenic | Chromosome Xq26.3 duplication syndrome | 2016-01-01 | criteria provided, single submitter | research | |
| Lupski Lab, |
RCV000415471 | SCV000493134 | likely pathogenic | Chromosome Xq26.3 duplication syndrome | 2016-01-01 | criteria provided, single submitter | research | |
| Lupski Lab, |
RCV000520873 | SCV000494285 | pathogenic | Prader-Willi syndrome | criteria provided, single submitter | research | This deletion of 15q11q13 is de novo and represents the typical recurrent type 2 deletion. | |
| Neurogenetics Laboratory - |
RCV000417025 | SCV000494568 | pathogenic | Epileptic encephalopathy | 2016-11-16 | criteria provided, single submitter | clinical testing | |
| Neurogenetics Laboratory - |
RCV000416971 | SCV000494569 | pathogenic | Epileptic encephalopathy | 2016-11-16 | criteria provided, single submitter | clinical testing | |
| Center for Pediatric Genomic Medicine, |
RCV000426541 | SCV000510962 | uncertain significance | not provided | 2017-01-02 | criteria provided, single submitter | clinical testing | Converted during submission to Uncertain significance. |
| Center for Pediatric Genomic Medicine, |
RCV000426740 | SCV000511008 | uncertain significance | not provided | 2017-01-16 | criteria provided, single submitter | clinical testing | Converted during submission to Uncertain significance. |
| Knight Diagnostic Laboratories, |
RCV000454279 | SCV000538074 | pathogenic | Hypoparathyroidism retardation dysmorphism syndrome | 2016-04-08 | criteria provided, single submitter | clinical testing | The heterozygous deletion of exons 3 and 4 that was detected by a single copy loss of 16 oligonucleotide probes spanning approximately 7,842 bp in the TBCE gene, Hg19 chr1: g.(235575072_235577473)_(235582954_235583424)del (NM_ 003193) has not been previously reported in an affected individual. TBCE is the only gene implicated in HRD and suggests that this disorder has a single gene etiology. The out-of-frame deletion leads to premature protein truncation. Deletions and truncation variants are common mechanisms of disease; the c.155-166del12 in the TBCE gene is considered the most common pathogenic variant for this condition (Kerkeni E et al., 2015). Based on these criteria, this CNV is interpreted at pathogenic. We have confirmed the findings using a custom exon-centric microarray. |
| Knight Diagnostic Laboratories, |
RCV000454326 | SCV000538075 | likely pathogenic | Infantile nephronophthisis | 2016-04-19 | criteria provided, single submitter | clinical testing | A heterozygous deletion of the 5’-UTR and exons 1 and 2 was detected by a single copy loss of 117 oligonucleotide probes spanning approximately 139,883 bp in the INVS gene, Hg19 chr9: g.( 102814578_102860399)_(102967421_102968415)del (NM_ 001318381). This variant has not been previously reported in an affected individual. Exon 2, which is deleted in this CNV, contains the start codon, implying a loss of the initiation codon. Several frameshift and nonsense variants in this gene have been described in affected individuals (Tory K et al., 2009) suggesting that loss of functions is mechanism of disease. Based on these criteria, this CNV is interpreted at Likely Pathogenic. We have confirmed the findings using a custom exon-centric microarray. |
| Knight Diagnostic Laboratories, |
RCV000454211 | SCV000538076 | likely pathogenic | Fanconi anemia, complementation group A | 2016-04-01 | criteria provided, single submitter | clinical testing | The c.1627-?_2778+?del deletion in the FANCA gene is novel, however, similar sized deletions in the same genomic vicinity have been previously reported as pathogenic (deletion of exons 18-25: Moghrabi et al. 2009) (deletion of exons 21-29: Castella et al., 2011). Mutations in the coding region of FANCA account for approximately 60-70% of Fanconi Anemia Complementation Group A (FA-A) patients, and approximately 10% of pathogenic mutations are large, multi-exonic deletions (Castella et al., 2011). This deletion encompasses amino acids 543-926 in the FANCA protein, and removes a portion of the BRCA-interacting region (amino acids 740-1083) as well as three important phosphoserines (amino acids 849, 850 and 858) (Folias et al., 2002). In addition, this deletion also disrupts a known nuclear export sequence (amino acids 860-880), which would effectively abolish protein transport from the nucleus to the cytoplasm (Ferrer et al., 2005). Therefore, this novel 11-exon deletion is expected to severely truncate the FANCA protein and compromise its function. The collective evidence supports the classification of the c.1627-?_2778+?del as a recessive likely pathogenic variant for Fanconi Anemia, Complementation Group A. |
| Knight Diagnostic Laboratories, |
RCV000454303 | SCV000538077 | likely pathogenic | Fanconi anemia, complementation group A | 2016-04-01 | criteria provided, single submitter | clinical testing | The c.1627-?_2778+?del deletion in the FANCA gene is novel, however, similar sized deletions in the same genomic vicinity have been previously reported as pathogenic (deletion of exons 18-25: Moghrabi et al. 2009) (deletion of exons 21-29: Castella et al., 2011). Mutations in the coding region of FANCA account for approximately 60-70% of Fanconi Anemia Complementation Group A (FA-A) patients, and approximately 10% of pathogenic mutations are large, multi-exonic deletions (Castella et al., 2011). This deletion encompasses amino acids 543-926 in the FANCA protein, and removes a portion of the BRCA-interacting region (amino acids 740-1083) as well as three important phosphoserines (amino acids 849, 850 and 858) (Folias et al., 2002). In addition, this deletion also disrupts a known nuclear export sequence (amino acids 860-880), which would effectively abolish protein transport from the nucleus to the cytoplasm (Ferrer et al., 2005). Therefore, this novel 11-exon deletion is expected to severely truncate the FANCA protein and compromise its function. The collective evidence supports the classification of the c.1627-?_2778+?del as a recessive likely pathogenic variant for Fanconi Anemia, Complementation Group A. |
| Counsyl | RCV000496588 | SCV000579478 | pathogenic | Spinal muscular atrophy, type II; Kugelberg-Welander disease; Werdnig-Hoffmann disease; Spinal muscular atrophy type 4 | 2016-11-08 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000492851 | SCV000581397 | pathogenic | Hereditary breast and ovarian cancer syndrome | 2016-12-19 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing the last 2712 nucleotides of exon 10 and all of exon 11 of the BRCA1 gene (c.1385_4186-2276del). The 5' breakpoint of this deletion is within exon 10 at nucleotide 1385, and the 3' breakpoint is within intron 11 at nucleotide 4186-2276. This creates a frameshift at residue 462 and is expected to result in an absent or disrupted protein product. A similar deletion involving exons 10-11, which in the literature are also known as exons 11-12, has been reported in an individual with breast cancer (PMID: 18703817). For these reasons, this variant has been classified as Pathogenic. |
| Yang An- |
RCV000504607 | SCV000583426 | pathogenic | Neoplasm of the breast | criteria provided, single submitter | clinical testing | ||
| Counsyl | RCV000499484 | SCV000590824 | pathogenic | alpha Thalassemia | 2015-01-14 | criteria provided, single submitter | clinical testing | -α3.7 is classified as an alpha+ mutation. |
| Center of Genomic medicine, |
RCV000500418 | SCV000598154 | pathogenic | Hereditary hemorrhagic telangiectasia type 1 | 2016-08-04 | criteria provided, single submitter | clinical testing | |
| Emory University School of Medicine, |
RCV000664328 | SCV000599234 | pathogenic | Inclusion body myositis; GNE myopathy | 2017-09-06 | criteria provided, single submitter | clinical testing | Heterozygoous 7.082 kb deletion variant encompassing untranslated exon 2 of GNE gene abolishes respective allele expression. Factors considered in the assessment. * RNA-sequencing using target muscle biopsy showing complete abolishment of the respective allele with confirmation by cDNA sequencing. * Gene expression analysis from RNA-seq transcript abundance data shows ~50% reduction in expression of GNE gene. * Patient harboring the variant show clinical phenotype resembling unusual GNE myopathy with inflammation. |
| Cardiovascular Research Group, |
RCV000505253 | SCV000599309 | pathogenic | Familial hypercholesterolemia 1 | 2016-03-01 | criteria provided, single submitter | curation | |
| Cardiovascular Research Group, |
RCV000505214 | SCV000599316 | pathogenic | Familial hypercholesterolemia 1 | 2016-03-01 | criteria provided, single submitter | curation | |
| Cardiovascular Research Group, |
RCV000505243 | SCV000599317 | pathogenic | Familial hypercholesterolemia 1 | 2016-03-01 | criteria provided, single submitter | curation | |
| Cardiovascular Research Group, |
RCV000505182 | SCV000599318 | pathogenic | Familial hypercholesterolemia 1 | 2016-03-01 | criteria provided, single submitter | curation | |
| Cardiovascular Research Group, |
RCV000505219 | SCV000599319 | uncertain significance | Familial hypercholesterolemia 1 | 2016-03-01 | criteria provided, single submitter | curation | |
| Cardiovascular Research Group, |
RCV000505246 | SCV000599320 | uncertain significance | Familial hypercholesterolemia 1 | 2016-03-01 | criteria provided, single submitter | curation | |
| Institute of Human Genetics, |
RCV000505401 | SCV000599662 | pathogenic | Familial X-linked hypophosphatemic vitamin D refractory rickets | 2013-11-06 | criteria provided, single submitter | clinical testing | |
| Institute of Human Genetics, |
RCV000505435 | SCV000599703 | pathogenic | Familial X-linked hypophosphatemic vitamin D refractory rickets | 2017-08-31 | criteria provided, single submitter | clinical testing | |
| ARUP Laboratories, |
RCV000507088 | SCV000604011 | benign | not specified | 2017-03-10 | criteria provided, single submitter | clinical testing | |
| ARUP Laboratories, |
RCV000507675 | SCV000604012 | benign | not provided | 2017-06-05 | criteria provided, single submitter | clinical testing | |
| ARUP Laboratories, |
RCV000506667 | SCV000604964 | benign | not specified | 2016-07-26 | criteria provided, single submitter | clinical testing | |
| ARUP Laboratories, |
RCV000506174 | SCV000605444 | uncertain significance | not specified | 2017-03-10 | criteria provided, single submitter | clinical testing | |
| Department of Medical Genetics, |
RCV000506461 | SCV000605722 | likely pathogenic | Breast-ovarian cancer, familial 1 | 2016-01-25 | criteria provided, single submitter | clinical testing | Heterozygous deletion of exon 10 (also known as exon 11) |
| Undiagnosed Diseases Network, |
RCV000551008 | SCV000622149 | uncertain significance | Brown-Vialetto-Van Laere syndrome 1 | 2016-03-02 | criteria provided, single submitter | clinical testing | Clinically diagnosed with riboflavin transporter deficiency; patient responded to high dose vitamin B2 treatment. |
| Invitae | RCV000540764 | SCV000622891 | pathogenic | Gorlin syndrome | 2017-04-19 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the PTCH1 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Loss-of-function variants and gross deletions in PTCH1 are known to be pathogenic. Deletions involving the entire PTCH1 gene have been reported in individuals affected with Gorlin syndrome (PMID: 22382802, 17703323). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000557733 | SCV000623136 | pathogenic | Beckwith-Wiedemann syndrome | 2017-09-07 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the NSD1 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Similar deletions encompassing the entire NSD1 gene have been reported in many individuals affected with Sotos syndrome (PMID: 18505455, 21597970, 25608832). Loss-of-function variants in NSD1 are known to be pathogenic (PMID: 12464997, 14571271, 15942875, 16247291). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000533918 | SCV000623137 | pathogenic | Beckwith-Wiedemann syndrome | 2017-06-29 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exons 18-20 of the NSD1 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with NSD1-related disease. Loss-of-function variants in NSD1 are known to be pathogenic (PMID:  12807965, 15942875, 17565729). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000548818 | SCV000623513 | uncertain significance | Hypertrophic cardiomyopathy | 2018-06-28 | criteria provided, single submitter | clinical testing | A gross duplication of the genomic region encompassing the full coding sequence of the TNNI3 gene has been identified. The boundaries of this event are unknown as the duplication extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this duplication is unknown, it may be in tandem or it may be located elsewhere in the genome. This variant has not been reported in the literature in individuals with a TNNI3-related disease. In summary, the exact genomic location of this variant is unknown and the effect of this whole TNNI3 gene duplication is unknown. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Invitae | RCV000549634 | SCV000623932 | pathogenic | Primary ciliary dyskinesia | 2017-04-23 | criteria provided, single submitter | clinical testing | This variant is a gross duplication of the genomic region encompassing exon 9 of the CCDC39 gene. While the exact position of the duplicated exon cannot be determined from this data, the duplicated copy of this region is likely in tandem and may result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with a CCDC39-related disease. However, it has been observed with a pathogenic variant (c.610-2A>G) in CCDC39 in an individual with primary ciliary dyskinesia (Invitae). While it is unknown if these two variants are on the same or opposite chromosomes, this observation suggests that the duplication of this exon may contribute to the cause of disease. For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000539192 | SCV000623934 | pathogenic | Primary ciliary dyskinesia | 2017-08-11 | criteria provided, single submitter | clinical testing | This variant is a gross duplication of the genomic region encompassing exons 54-70 of the DNAH5 gene. While the exact position of the duplicated exons cannot be determined from this data, the duplicated copy of this region is likely in tandem and may result in an absent or disrupted protein product. This duplication has not been reported in the literature in individuals with DNAH5-related disease. However, it has been observed on the opposite chromosome (in trans) from a pathogenic variant in an individual affected with primary ciliary dyskinesia (Invitae). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. Sub-genic duplications are generally in tandem (PMID: 25640679), and result in an absent or disrupted protein. Loss-of-function variants in DNAH5 are known to be pathogenic (PMID: 11788826, 16627867). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000553952 | SCV000623935 | uncertain significance | Primary ciliary dyskinesia | 2017-08-16 | criteria provided, single submitter | clinical testing | This variant is an in-frame deletion of the genomic region encompassing exons 44-46 of the DNAH5 gene. It preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals with DNAH5-related disease. Experimental studies are not available for this copy number variant, and the functional significance of the deleted exons is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Invitae | RCV000527667 | SCV000623936 | likely pathogenic | Primary ciliary dyskinesia | 2017-02-06 | criteria provided, single submitter | clinical testing | This variant is a gross duplication of the genomic region encompassing exons 7-14 of the DNAH11 gene. While the exact position of the duplicated exons cannot be determined from this data, the duplicated copy of this region is likely in tandem and in-frame, therefore preserving the integrity of the reading frame. A copy number variant encompassing the same exons of DNAH11 occurs with a second rare variant (p.Arg3429Ser) in an individual with primary ciliary dyskinesia (PMID:26139845). While it is unknown if these two variants are on the same or opposite chromosomes, this observation suggests a duplication of exons 7-14 may contribute to the cause of disease. In summary, this variant is a rare exon level duplication, and a similar copy number variant has been reported in an affected individual. This evidence indicates that the variant is pathogenic, but additional data is needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
| Invitae | RCV000538254 | SCV000624561 | pathogenic | Hereditary nonpolyposis colon cancer | 2017-05-17 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the EPCAM gene has been identified. The 5’ boundary of this event is unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. If MSH2 has been tested and no copy number events are reported for it, then the 3' boundary of this event lies between the EPCAM and MSH2 genes. If MSH2 has not been tested, the 3' end of this event is unknown as it extends beyond the assayed region of this test. This is expected to result in an absent or disrupted protein product. Loss-of-function variants in EPCAM are known to be pathogenic. Deletion of the entire EPCAM gene has been reported in an individual affected with a Lynch syndrome-associated cancer and/or colorectal polyps (PMID: 25980754), as well as in an individual affected with autosomal recessive congenital tufting enteropathy (PMID: 24142340). In addition, deletions of EPCAM extending to the adjacent MSH2 gene have been reported in individuals with Lynch syndrome (PMID: 16086322, 22658618), and deletions involving the 3' end of the EPCAM gene are known to cause Lynch syndrome through the mechanism of transcriptional read-through resulting in silencing of the adjacent MSH2 gene (PMID: 21145788). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000531596 | SCV000624563 | uncertain significance | Hereditary nonpolyposis colon cancer | 2017-04-11 | criteria provided, single submitter | clinical testing | This variant is a gross duplication of the genomic region encompassing exons 1-4 of the MSH2 gene. If EPCAM has been tested and no copy number events are reported for it, then the 5' boundary of this event lies between the EPCAM and MSH2 genes. If EPCAM has not been tested, the 5' end of this event is unknown as it extends beyond the assayed region of this test. The 3' boundary is likely confined to intron 4 of the MSH2 gene. This duplication has not been reported in the literature in individuals with an MSH2-related disease. In summary, the exact genomic location of this variant is unknown and the impact of this duplication on MSH2 protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Invitae | RCV000546344 | SCV000624564 | pathogenic | Hereditary nonpolyposis colon cancer | 2017-07-18 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 5-9 of the EPCAM gene. The 5' boundary is likely confined to intron 4. If MSH2 has been tested and no copy number events are reported for it, then the 3’ boundary of this event lies between the EPCAM and MSH2 genes. If MSH2 has not been tested, the 3’ end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. Deletions involving the 3’ region of the EPCAM gene (minimally, exon 9) are known to cause Lynch syndrome. These deletions lead to transcriptional read-through from the EPCAM promoter into the adjacent MSH2 gene, resulting in hypermethylation of the MSH2 promoter and silencing of MSH2 expression (PMID: 19098912, 19177550, 21309036). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000552246 | SCV000624565 | pathogenic | Hereditary nonpolyposis colon cancer | 2017-07-26 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the MSH2 gene has been identified. If EPCAM has been tested and no copy number events are reported for it, then the 5' boundary of this event lies between the EPCAM and MSH2 genes. If EPCAM has not been tested, the 5' end of this event is unknown as it extends beyond the assayed region of this test. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. Similar deletions of the entire MSH2 gene have been reported in individuals affected with endometrial, prostate and breast cancer (PMID: 24323032, 25117503, 22691310), Lynch syndrome (PMID: 16837128, 22782591), and suspected Lynch syndrome (PMID: 11857745, 15475941). Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000545560 | SCV000624567 | pathogenic | Hereditary nonpolyposis colon cancer | 2018-02-20 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 1-7 of the MSH2 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 7 of the MSH2 gene. This is expected to result in an absent or disrupted protein product. Similar deletions have been reported in several individuals and families affected with Lynch syndrome (PMID: 15942939, 16086322, 12938096, 19930554, 12373605, 16143124). Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000560238 | SCV000624568 | uncertain significance | Hereditary nonpolyposis colon cancer | 2017-09-02 | criteria provided, single submitter | clinical testing | This variant is a gross duplication of the genomic region encompassing exons 2-7 of the MSH2 gene. While the exact position of the duplicated exons cannot be determined from this data, the duplicated copy of this region is likely in tandem and in-frame, therefore preserving the integrity of the reading frame. This variant has not been reported in the literature in an individual with a MSH2-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acids is currently unknown. In summary, the exact genomic location of this variant is unknown and the impact of this duplication on MSH2 protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Invitae | RCV000534285 | SCV000624569 | pathogenic | Hereditary nonpolyposis colon cancer | 2017-07-13 | criteria provided, single submitter | clinical testing | This variant is an in-frame deletion of the genomic region encompassing exons 3-4 of the MSH2 gene. It preserves the integrity of the reading frame. While the deletion of exon 3-4 has not been reported in the literature, deletions of exon 3 and of exon 4 which are also in-frame deletions have been reported in individuals and families with Lynch syndrome (PMID: 19459153, 21642682, 16541406, 22883484, 9843200, 10480359, 14512394, 18566915). Furthermore, Deletion of exons 3 and 4 (p.Ala123_Gln264del) removes the connector domain (or DNA binding domain) of the MSH2 protein. The connector domain is required for mismatch repair (MMR) complex formation, which is necessary for adequate MSH2 mismatch repair protein function (PMID: 18822302, 18383312, 20080788, 26163658, 21454657). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000544514 | SCV000624570 | likely pathogenic | Hereditary nonpolyposis colon cancer | 2018-03-29 | criteria provided, single submitter | clinical testing | This variant results in a copy number gain of the genomic region encompassing exons 5-7 of the MSH2 gene. While the exact position of this variant cannot be determined from this data, sub-genic copy number gains are generally in tandem (PMID: 25640679) and may result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with MSH2-related disease. ClinVar contains an entry for MSH2 duplications of exons 5-7 (Variation ID: 218047). Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
| Invitae | RCV000559471 | SCV000624571 | pathogenic | Hereditary nonpolyposis colon cancer | 2017-12-01 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exons 7-8 of the MSH2 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Loss-of-function variants in MSH2 are known to be pathogenic. Deletion of exons 7-8 has been reported in the literature in families affected with Lynch syndrome (PMID: 15942939, 16736289). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000537851 | SCV000624572 | likely pathogenic | Hereditary nonpolyposis colon cancer | 2017-11-29 | criteria provided, single submitter | clinical testing | This variant is an in-frame deletion of the genomic region encompassing exons 7-10 of the MSH2 gene. It preserves the integrity of the reading frame. A similar deletion of exons 7-10 has been reported in a single family affected with Lynch syndrome. Currently there is insufficient evidence to conclude whether this variant segregates with disease or not (PMID: 10495924). Experimental studies and prediction algorithms are not available for this deletion, and the functional significance of the deleted amino acids is currently unknown. A splice site variant (c.1276+1G>A) that results in the in-frame deletion of 16 amino acids (p.Gly410_Glu425del) thereby removing part of MSH3/MSH6 interaction domain is encompassed within the region deleted by this variant and has been determined to be pathogenic (PMID: 15849733, 19669161). This suggests that the domain deleted by this variant is critical for MSH2 protein function and that the removal of amino acids at this position may also be pathogenic. In summary, this deletion removes a critical portion of the MSH3/MSH6 interaction domain and has been described in a family affected with Lynch syndrome. This evidence indicates that the variant is pathogenic, but additional data is needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
| Invitae | RCV000548206 | SCV000624573 | pathogenic | Hereditary nonpolyposis colon cancer | 2017-07-26 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 11-16 of the MSH2 gene. The 5' boundary is likely confined to intron 10. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. Similar deletions of exons 11-16 have been reported in individuals affected with Lynch syndrome, with evidence of segregation with disease (PMID: 17582678, 24039744). Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000536931 | SCV000624575 | pathogenic | Hereditary nonpolyposis colon cancer | 2018-05-09 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exon 14 of the MSH2 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. Deletion of exon 14 has been observed in individuals affected with hereditary non-polyposis colorectal cancer (PMID: 26437257, 18931482). ClinVar contains an entry for deletion of exon 14 (Variation ID: 90931). Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000551811 | SCV000624576 | pathogenic | Hereditary nonpolyposis colon cancer | 2017-03-09 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 14-16 of the MSH2 gene. The 5' boundary is likely confined to intron 13. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. Loss-of-function variants in MSH2 are known to be pathogenic. A deletion of MSH2 exons 14-16 has been reported in the literature in an individual affected with Lynch sydrome (PMID: 25430799). While this variant is not anticipated to result in nonsense mediated decay, it is expected to delete the last 197 amino acids of the MSH2 protein (Ser738-Thr934). This will remove most of the ATPase domain and all of the helix-turn-helix domain, both of which are important for MSH2 protein function (PMID: 18822302). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000525691 | SCV000624577 | pathogenic | Hereditary nonpolyposis colon cancer | 2018-01-20 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon 1 of the MSH6 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 1 of the MSH6 gene. This is expected to result in an absent or disrupted protein product. A deletion of exon 1 has not been reported in the literature in individuals with MSH6-related disease. Loss-of-function variants in MSH6 are known to be pathogenic (PMID: 18269114, 24362816). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000555418 | SCV000624579 | pathogenic | Hereditary nonpolyposis colon cancer | 2017-08-16 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 1-6 of the MSH6 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 6 of the MSH6 gene. This is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with MSH6-related disease. Loss-of-function variants in MSH6 are known to be pathogenic (PMID: 24362816, 18269114). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000549730 | SCV000624593 | pathogenic | Hereditary nonpolyposis colon cancer | 2017-11-27 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exons 13-14 of the PMS2 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with PMS2-related disease. This deletion eliminates a portion of the MLH1 interaction domain, which is encoded by exons 12 to 15 of the PMS2 mRNA. The entire MLH1 interaction domain is known to be required for normal PMS2 protein function (PMID: 10037723). Loss-of-function variants in PMS2 are known to be pathogenic (PMID: 21376568, 24362816). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000560003 | SCV000624594 | pathogenic | Hereditary nonpolyposis colon cancer | 2018-03-20 | criteria provided, single submitter | clinical testing | This variant is an in-frame deletion of the genomic region encompassing exons 7-14 of the PMS2 gene. It preserves the integrity of the reading frame. A similar deletion of exons 7-14 has been reported on the opposite chromosome (in trans) from another pathogenic variant in an individual with constitutional mismatch repair deficiency (CMMRD) (PMID: 23582141). This finding is consistent with autosomal recessive inheritance for CMMRD, and suggests that this variant contributes to disease. Several missense substitutions in exons 7-14 (p.Lys301Asn, p.Ile668Val and p.Glu705Lys) have been determined to be pathogenic (PMID: 18602922, 26110232, 25856668, 27435373, 25691505, 24027009, 20176959, 26318770, 27601186). This suggests that this region is critical for PMS2 protein function and this deletion variant may also be pathogenic. Loss-of-function variants in PMS2 are known to be pathogenic (PMID: 21376568, 24362816). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000542078 | SCV000624598 | uncertain significance | Hereditary nonpolyposis colon cancer | 2017-02-13 | criteria provided, single submitter | clinical testing | This variant is a gross duplication of the genomic region encompassing exons 6-14 of the PMS2 gene. While the exact position of the duplicated exons cannot be determined from this data, the duplicated copy of this region is likely in tandem and in-frame, therefore preserving the integrity of the reading frame. This variant has not been reported in the literature in individuals with a PMS2-related disease. In summary, the exact genomic location of this variant is unknown and the impact of this duplication on PMS2 protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Invitae | RCV000553493 | SCV000625723 | pathogenic | Cystic fibrosis | 2017-10-04 | criteria provided, single submitter | clinical testing | This variant is an in-frame deletion of the genomic region encompassing exons 25-26 of the CFTR gene. It preserves the integrity of the reading frame. Deletions of exons 25-26 been reported in individuals affected with cystic fibrosis (PMID: 15024729, 16362824, 18683213). Due to alternative exon nomenclature, this variant is also known as deletion of exons 22-23 in the literature. This deletion disrupts the nucleotide binding domain (NBD2) of the CFTR protein, which is essential for ATP hydrolysis and proper CFTR function (PMID: 15284228). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000527161 | SCV000625772 | pathogenic | Duchenne muscular dystrophy | 2017-02-27 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exons 58-61 of the DMD gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791). A similar copy number variant has been reported in individuals affected with Duchenne muscular dystrophy in the Universal Mutation Database (PMID: 22144684). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000541907 | SCV000625773 | pathogenic | Duchenne muscular dystrophy | 2017-06-29 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exons 53-60 of the DMD gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. This variant has been reported in an individual affected with Duchenne muscular dystrophy (PMID: 16834926). Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000541516 | SCV000625779 | pathogenic | Duchenne muscular dystrophy | 2017-07-27 | criteria provided, single submitter | clinical testing | This variant is an in-frame deletion of the genomic region encompassing exons 45-55 of the DMD gene. It preserves the integrity of the reading frame. This variant has been reported in several individuals affected with Duchenne or Becker muscular dystrophy (PMID: 22090376, 11257468, 26911353, 18752307, 20683981, 16030524) and in individuals affected with dilated cardiomyopathy (PMID: 18261911). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000559416 | SCV000625783 | pathogenic | Duchenne muscular dystrophy | 2018-07-03 | criteria provided, single submitter | clinical testing | This variant is an in-frame deletion of the genomic region encompassing exons 49-51 of the DMD gene. It preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been reported in two individuals affected with muscular dystrophy (PMID: 9470882, 9619643), as well as in several individuals with dilated cardiomyopathy (PMID: 9470882, 20031633, Invitae). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000542227 | SCV000625799 | pathogenic | Duchenne muscular dystrophy | 2017-08-07 | criteria provided, single submitter | clinical testing | This variant is an in-frame deletion of the genomic region encompassing exons 19-44 of the DMD gene. It preserves the integrity of the reading frame. This variant has been reported in individuals affected with Duchenne muscular dystrophy (PMID: 12324874, 9628192). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000544111 | SCV000625805 | uncertain significance | Duchenne muscular dystrophy | 2017-08-08 | criteria provided, single submitter | clinical testing | This variant is a gross duplication of the genomic region encompassing exon 30 of the DMD gene. While the exact position of the duplicated exon cannot be determined from this data, the duplicated copy of this region is likely in tandem and in-frame, therefore preserving the integrity of the reading frame. This variant has not been reported in the literature in individuals with DMD-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acids is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Invitae | RCV000547407 | SCV000625808 | pathogenic | Duchenne muscular dystrophy | 2017-07-19 | criteria provided, single submitter | clinical testing | This variant is a gross duplication of the genomic region encompassing exons 2-18 of the DMD gene. While the exact position of the duplicated exons cannot be determined from this data, the duplicated copy of this region is likely in tandem and may result in an absent or disrupted protein product. Duplication of exons 2-18 has not been reported in the literature in individuals with DMD-related disease. Sub-genic duplications are generally in tandem (PMID: 25640679), and result in an absent or disrupted protein. Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000559673 | SCV000625809 | likely pathogenic | Duchenne muscular dystrophy | 2017-07-11 | criteria provided, single submitter | clinical testing | This variant is a gross duplication of the genomic region encompassing exons 13-16 of the DMD gene. While the exact position of the duplicated exons cannot be determined from this data, the duplicated copy of this region is likely in tandem and in-frame, therefore preserving the integrity of the reading frame. This variant has been reported in an individual affected with Becker muscular dystrophy (PMID: 22776072). Similar in-frame duplications have been reported in multiple individuals affected with DMD-related muscular dystrophy (PMID: 15655674, 19937601, 18752307, 18853462, 16917894). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
| Invitae | RCV000528452 | SCV000625818 | pathogenic | Duchenne muscular dystrophy | 2018-03-12 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon 1 of the DMD gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 1 of the DMD gene. This is expected to result in an absent or disrupted protein product. Deletions involving the promoter and exon 1 have been reported in individuals affected with DMD-related muscular dystrophy (PMID: 18752307, 25076844, 26718981) and in a family affected with dilated cardiomyopathy (PMID: 8361506). Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000546533 | SCV000626134 | uncertain significance | Fanconi anemia | 2017-06-23 | criteria provided, single submitter | clinical testing | A gross duplication of the genomic region encompassing the full coding sequence of the FANCG gene has been identified. The boundaries of this event are unknown as the duplication extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this duplication is unknown, it may be in tandem or it may be located elsewhere in the genome. This variant has not been reported in the literature in individuals with a FANCG-related disease. The exact genomic location of this variant is unknown. In summary, this variant has uncertain impact on FANCG function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Invitae | RCV000535898 | SCV000626139 | pathogenic | Fanconi anemia | 2017-05-30 | criteria provided, single submitter | clinical testing | This variant is an in-frame deletion of the genomic region encompassing exons 15-17 of the FANCA gene. It preserves the integrity of the reading frame. This deletion, and similar in-frame deletions within exons 15-17, have been reported in individuals affected with Fanconi anemia (PMID: 10521298, 23613520, 17924555, 9711872). The in-frame deletion of exon 15 has been reported as a founder variant in the Tunisian population (PMID: 24689079). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000546093 | SCV000626140 | pathogenic | Fanconi anemia | 2017-02-28 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exons 12-14 of the FANCA gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in FANCA are known to be pathogenic (PMID: 19367192). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000559283 | SCV000626828 | pathogenic | Wilson disease | 2017-06-09 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exon 2 of the ATP7B gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. This variant has been reported in combination with another ATP7B variant in two individuals affected with Wilson disease (PMID: 27398169). Loss-of-function variants in ATP7B are known to be pathogenic (PMID: 16283883, 10441329). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000558078 | SCV000626868 | pathogenic | Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome | 2017-12-15 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the VHL gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Deletions of the entire VHL gene have been reported in multiple individuals and families with von Hippel-Lindau syndrome (PMID: 10830910, 10567493, 8634692, 17537157, 20567917). Loss-of-function variants in VHL are known to be pathogenic (PMID: 8956040, 12202531). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000551115 | SCV000626870 | pathogenic | Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome | 2017-12-15 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 2-3 of the VHL gene. The 5' boundary is likely confined to intron 1. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. Deletions of exons 2-3 have been reported several in individuals with von Hippel-Lindau (VHL) syndrome (PMID: 19336503, 17661816, 12114495, 19764026). This deletion includes the elongin binding domain of VHL, which is required for protein stability and tumor suppressive activity (PMID: 14987375, 10900011). There are also several pathogenic missense and loss-of-function variants encompassed by this deletion in individuals with VHL, further demonstrating the importance of this region (PMID: 8707293). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000543243 | SCV000627006 | pathogenic | Familial hypercholesterolemia 1 | 2018-03-07 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exons 7-12 of the LDLR gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. A deletion of exons 7-12 has been reported in the literature in an individual affected with familial hypercholesterolemia (PMID: 19538517). Loss-of-function variants in LDLR are known to be pathogenic (PMID: 20809525). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000531974 | SCV000627008 | likely pathogenic | Familial hypercholesterolemia 1 | 2017-08-11 | criteria provided, single submitter | clinical testing | This variant is an in-frame duplication of the genomic region encompassing exons 4-8 of the LDLR gene. It preserves the integrity of the reading frame. This variant has been reported in individuals with familial hypercholesterolemia (PMID: 20663204, 16792510). Sub-genic duplications are generally in tandem (PMID: 25640679), and result in an absent or disrupted protein. Loss-of-function variants in LDLR are known to be pathogenic (PMID: 20809525). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
| Invitae | RCV000557837 | SCV000627365 | pathogenic | Long QT syndrome | 2018-01-25 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 1-2 of the KCNH2 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 2 of the KCNH2 gene. This is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with KCNH2-related disease. Loss-of-function variants in KCNH2 are known to be pathogenic (PMID: 19862833). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000560623 | SCV000627828 | pathogenic | Marfan syndrome; Thoracic aortic aneurysm and aortic dissection | 2017-03-14 | criteria provided, single submitter | clinical testing | This variant is an in-frame deletion of the genomic region encompassing exons 14-17 of the FBN1 gene. It preserves the integrity of the reading frame. This variant has not been reported in the literature in an individual with a FBN1-related disease. This deletion affects the epidermal-growth-factor (EGF)–like domain of the FBN1 protein. Cysteine residues in these domains have been shown to be involved in the formation of disulfide bridges, which are critical for FBN1 protein structure and stability (PMID: 10486319, 3495735, 4750422, 16677079). In summary, this deletion disrupts an important functional domain in the FBN1 protein. For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000536805 | SCV000627829 | pathogenic | Marfan syndrome; Thoracic aortic aneurysm and aortic dissection | 2017-01-24 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 11-15 of the FBN1 gene. This leads to an in-frame deletion, preserving the integrity of the reading frame. This variant has not been reported in the literature in an individual with a FBN1-related condition. This gross deletion affects the epidermal-growth-factor (EGF)–like domain of the FBN1 protein. Cysteine residues in this domain have been shown to be involved in the formation of disulfide bridges, which are critical for FBN1 protein structure and stability (PMID: 10486319, 3495735, 4750422, 16677079). In addition, missense substitutions within the FBN1 EGF-like domains affecting cysteine residues are significantly overrepresented among patients with Marfan syndrome (PMID: 16571647, 17701892), and variants within exons 11-15 have been classified as likely pathogenic or pathogenic (PMID: 10486319, 18471089, 21542060, 21932315, 795121, 27112580, Invitae). In summary, this is a rare gross deletion that affects a protein domain crucial for FBN1 protein function. For these reasons, this deletion has been classified as Pathogenic. |
| Invitae | RCV000544886 | SCV000627830 | pathogenic | Marfan syndrome; Thoracic aortic aneurysm and aortic dissection | 2018-03-16 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 2-15 of the FBN1 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 15 of the FBN1 gene. This is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with FBN1-related disease. Loss-of-function variants in FBN1 are known to be pathogenic (PMID: 17657824, 19293843). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000530964 | SCV000628126 | likely pathogenic | Hereditary cancer-predisposing syndrome | 2017-07-13 | criteria provided, single submitter | clinical testing | This variant is an in-frame deletion of the genomic region encompassing exons 3-5 of the RAD50 gene. It preserves the integrity of the reading frame. Deletions of exons 3-5 have not been reported in the literature in individuals with RAD50-related disease. While this variant is not expected to result in nonsense mediated decay, it is expected to delete nearly the entire N-terminal ATPase domain of the RAD50 protein (deleted residues Val72-Lys252) (PMID: 10892749, 24894818). It is also expected to delete the N-terminal portion of the MRE11 interaction domain (PMID: 24894818). Although functional studies have not been done for this particular variant, loss of this N-terminal region of the protein likely disrupts ATPase activity and MRE11 complexing, leading to impaired RAD50 protein function (PMID: 25828805). This suggests that deletion of this region of the RAD50 protein is causative of disease. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
| Invitae | RCV000546604 | SCV000628127 | pathogenic | Hereditary cancer-predisposing syndrome | 2017-07-13 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exons 14-16 of the RAD50 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with a RAD50-related disease. Loss-of-function variants in RAD50 are known to be pathogenic (PMID: 19409520, 16385572). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000529549 | SCV000628836 | uncertain significance | Neurofibromatosis, type 2 | 2017-05-02 | criteria provided, single submitter | clinical testing | This variant is a gross duplication of the genomic region encompassing exons 13-16 of the NF2 gene. The 5' boundary is likely confined to intron 12. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals with a NF2-related disease. In summary, the exact genomic location of this variant is unknown and the impact of this duplication on NF2 protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Invitae | RCV000557921 | SCV000629385 | uncertain significance | Spastic paraplegia | 2017-03-21 | criteria provided, single submitter | clinical testing | A gross duplication of the genomic region encompassing the full coding sequence of the HSPD1 gene has been identified. The boundaries of this event are unknown as the duplication extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this duplication is unknown, it may be in tandem or it may be located elsewhere in the genome. This variant has not been reported in the literature in individuals with a HSPD1-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acids is currently unknown. In summary, the exact genomic location of this variant is unknown and the impact of this duplication on HSPD1 protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Invitae | RCV000528754 | SCV000630015 | pathogenic | Hypohidrotic X-linked ectodermal dysplasia | 2018-05-29 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon 1 of the EDA gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 1 of the EDA gene. This is expected to result in an absent or disrupted protein product. A similar deletion has been reported in the literature in individuals affected with X-linked anhidrotic ectodermal dysplasia (PMID:8696334,11295832). Loss-of-function variants in EDA are known to be pathogenic (PMID: 9683615). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000557231 | SCV000630046 | pathogenic | Citrullinemia type I | 2016-12-15 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon 5 of the ASS1 gene. This leads to an in-frame deletion, preserving the integrity of the reading frame. Exon 5 deletions of ASS1 have been observed in individuals affected with citrullinemia type I (PMID: 2615645, Invitae). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000548124 | SCV000630180 | uncertain significance | Congenital contractural arachnodactyly | 2017-03-30 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon 3 of the FBN2 gene. This leads to an in-frame deletion, preserving the integrity of the reading frame. This variant has not been reported in the literature in individuals with a FBN2-related disease. This deletion encompasses an epidermal growth factor (EGF)–like domain of the FBN2 protein. Although missense variants in cysteine residues located in EGF-like domains in FBN2 are well known to affect protein stability, there is no evidence that the deletion of a full EGF-like domain impacts protein function (PMID: 18767143). In summary, the impact of this single exon deletion of FBN2 on protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Invitae | RCV000550770 | SCV000630741 | uncertain significance | Hereditary pancreatitis | 2017-07-07 | criteria provided, single submitter | clinical testing | A gross duplication of the genomic region encompassing the full coding sequence of the SPINK1 gene has been identified. The boundaries of this event are unknown as the duplication extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this duplication is unknown, it may be in tandem or it may be located elsewhere in the genome. This variant has not been reported in the literature in individuals with SPINK1-related disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Invitae | RCV000532402 | SCV000630851 | pathogenic | Cohen syndrome | 2017-07-14 | criteria provided, single submitter | clinical testing | This variant is an in-frame deletion of the genomic region encompassing exons 8-23 of the VPS13B gene. It preserves the integrity of the reading frame. Deletion of exons 8-23 has not been reported in the literature in individuals with VPS13B-related disease. Smaller in-frame deletions encompassed by this variant (deletion of exons 20-21 or exons 18-21) have been reported in individuals affected with Cohen syndrome (PMID: 15141358, 16648375). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000545329 | SCV000631230 | uncertain significance | CHARGE association | 2017-11-01 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the SEMA3E gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Deletions of the entire SEMA3E gene have not been reported in the literature. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in SEMA3E cause disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance |
| Invitae | RCV000554640 | SCV000631437 | uncertain significance | Ehlers-Danlos syndrome, classic type | 2017-02-12 | criteria provided, single submitter | clinical testing | This variant is a gross duplication of the genomic region encompassing exons 8-54 of the COL5A2 gene. The 5' boundary is likely confined to intron 7. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes . As the precise location of this duplication is unknown, it may be in tandem or it may be located elsewhere in the genome. Duplications of exons 8-54  sequence have not been reported in the literature in individuals with a COL5A2-related disease. In summary, the exact genomic location of this variant is unknown and the impact of this duplication on COL5A2 protein function has not been established. Therefore, it has been classified as a Variant of Unknown Significance. |
| Invitae | RCV000551893 | SCV000632430 | pathogenic | Fumarase deficiency | 2018-04-06 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exon 6 of the FH gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This particular deletion has been reported in the literature in an individual affected with leiomyomatosis and renal cell cancer (PMID: 22382802). Loss-of-function variants in FH are known to be pathogenic (PMID: 11865300, 21398687). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000534871 | SCV000632675 | uncertain significance | Juvenile polyposis syndrome | 2017-04-28 | criteria provided, single submitter | clinical testing | This variant is a gross duplication of the genomic region encompassing exons 9-13 of the BMPR1A gene. The 5' boundary is likely confined to intron 9. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. Duplication of BMPR1A exons 9-13 has not been reported in the literature in individuals with a BMPR1A-related disorder. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of this duplication is currently unknown. In summary, the exact genomic location of this variant is unknown and the impact of this duplication on BMPR1A protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Invitae | RCV000549633 | SCV000632676 | pathogenic | Juvenile polyposis syndrome | 2017-03-17 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exons 9-10 of the SMAD4 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in SMAD4 are known to be pathogenic (PMID: 17873119, 16152648). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000529004 | SCV000632903 | pathogenic | Familial cancer of breast | 2017-06-15 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exon 7 of the BARD1 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in BARD1 are known to be pathogenic (PMID: 21344236, 22006311, 20077502). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000534626 | SCV000632904 | pathogenic | Familial cancer of breast | 2017-01-24 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 4-11 of the BARD1 gene. The 5' boundary is likely confined to intron 3. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. While this particular variant has not been reported in the literature, truncating variants in BARD1 are known to be pathogenic (PMID: 21344236, 22006311, 20077502). Deletion of exons 7-11 removes the C-terminal BRCT domains of the BARD1 protein. Experimental studies have shown that the BRCT domains are required for BARD1 homology-directed repair activity and the maintenance of chromosomal stability in vitro (PMID: 17848578). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000549668 | SCV000632905 | uncertain significance | Familial cancer of breast | 2018-01-04 | criteria provided, single submitter | clinical testing | A gross duplication of the genomic region encompassing the full coding sequence of the BARD1 gene has been identified. The boundaries of this event are unknown as the duplication extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this duplication is unknown, it may be in tandem or it may be located elsewhere in the genome. This variant has not been reported in the literature in individuals with BARD1-related disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Invitae | RCV000527946 | SCV000632906 | likely pathogenic | Familial cancer of breast | 2017-11-03 | criteria provided, single submitter | clinical testing | This variant is a gross duplication of the genomic region encompassing exons 2-3 of the BARD1 gene. While the exact position of the duplicated exons cannot be determined from this data, sub-genic duplications are generally in tandem (PMID: 25640679) and may result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with BARD1-related disease. Loss-of-function variants in BARD1 are known to be pathogenic (PMID: 20077502, 21344236). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
| Invitae | RCV000538400 | SCV000632907 | pathogenic | Familial cancer of breast | 2017-04-13 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 1 and 2 of the BARD1 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 2 of the BARD1 gene. This is expected to result in an absent or disrupted protein product. While this particular deletion has not been reported in the literature, loss-of-function variants in BARD1 are known to be pathogenic (PMID: 21344236, 22006311, 20077502). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000527152 | SCV000632909 | pathogenic | Familial cancer of breast | 2017-11-02 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon 1 of the BARD1 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 1 of the BARD1 gene. This is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in BARD1 are known to be pathogenic (PMID: 21344236, 22006311, 20077502). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000529833 | SCV000632915 | pathogenic | Familial cancer of breast | 2017-06-08 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 10-15 of the CHEK2 gene. The 5' boundary is likely confined to intron 9. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. While this gross deletion has not been reported in the literature, loss-of-function variants including gross deletions in CHEK2 are known to be pathogenic (PMID: 21876083, 24713400). This deletion (p.Tyr337_Leu543del) partially removes the kinase domain (residues 226-486), and the NLS (nuclear localization signal, residues 515-522), which are important for normal CHEK2 protein function (PMID: 11733767, 15279791, 19782031, 12909615, 18004398, 24879340). Smaller in-frame deletions and truncations in this region have been determined to be pathogenic in the Invitae database, suggesting that deletion of this region of the CHEK2 protein is causative of disease. For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000544738 | SCV000632916 | pathogenic | Familial cancer of breast | 2017-07-28 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 8-15 of the CHEK2 gene. The 5' boundary is likely confined to intron 7. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. This variant has not been reported in the literature in individuals with CHEK2-related disease. This deletion partially removes the kinase domain (residues 226-486), and the NLS (nuclear localization signal, residues 515-522), which are important for normal CHEK2 protein function (PMID: 11733767, 15279791, 19782031, 12909615, 18004398, 24879340). Smaller in-frame deletions and truncations in this region have been determined to be pathogenic in the Invitae database, suggesting that deletion of this region of the CHEK2 protein is causative of disease. For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000529270 | SCV000633748 | uncertain significance | Early infantile epileptic encephalopathy | 2017-07-21 | criteria provided, single submitter | clinical testing | This copy number variant is a gain (6 copies) of the genomic region encompassing exon 8 of the HCN1 gene. While the exact position of the duplicated exons cannot be determined from this data, the duplicated copies of this region are likely in tandem and in-frame, therefore preserving the integrity of the reading frame. Similar copy number gains have not been reported in the literature in individuals with HCN1-related disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Invitae | RCV000546295 | SCV000633749 | uncertain significance | Early infantile epileptic encephalopathy | 2017-03-16 | criteria provided, single submitter | clinical testing | This variant is a gross duplication of the genomic region encompassing exons 1-4 of the HCN1 gene. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 4 of the HCN1 gene. This variant has not been reported in the literature in individuals with a HCN1-related disease. To date, only missense variants in HCN1 have been reported in individuals affected with epilepsy. In summary, this is a novel duplication with an uncertain impact on protein function. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Invitae | RCV000558692 | SCV000633750 | pathogenic | Early infantile epileptic encephalopathy | 2017-05-09 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exon 4 of the STXBP1 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Deletion of exon 4 has been reported in the literature in individuals affected with West syndrome (PMID: 26865513) and Ohtahara syndrome (PMID: 22211739). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000543784 | SCV000633752 | likely pathogenic | Early infantile epileptic encephalopathy | 2017-08-10 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon 17 of the KCNQ2 gene. The 5' boundary is likely confined to intron 16. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. This variant has not been reported in the literature in individuals with a KCNQ2-related disease. A different variant that disrupts the final 98 amino acids of the KCNQ2 protein (p.Cys774Leufs*91) has been determined to be pathogenic (PMID: 23692823). This suggests that this region is critical for KCNQ2 protein function and that other variants that disrupt this region, such as this exon 17 deletion, may also be pathogenic. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
| Invitae | RCV000560721 | SCV000633753 | pathogenic | Early infantile epileptic encephalopathy | 2017-06-03 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 6-17 of the KCNQ2 gene. The 5' boundary is likely confined to intron 5. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. This particular deletion has not been reported in the literature in individuals with a KCNQ2-related disease.  However, other deletions that truncate the protein, including deletion of exons 9-17 and exons 13-17, have been reported to segregate with disease in families affected with benign familial neonatal seizures (PMID: 9425895, 14534157, 23360469). This suggests that deletion of this region of the KCNQ2 protein is causative of disease. For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000536780 | SCV000633754 | pathogenic | Early infantile epileptic encephalopathy | 2017-06-01 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exons 6-12 of the KCNQ2 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. While this particular deletion has not been reported in the literature, loss-of-function variants in KCNQ2 are known to be pathogenic (PMID: 14534157). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000554746 | SCV000634557 | pathogenic | Joubert syndrome | 2017-12-13 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon 7 and part of exon 8 of the AHI1 gene. The 5’ end of this event is located at c.749+528 in intron 6 and the 3’ boundary is located at c.1058 in exon 8 of the AHI1 gene (c.749+528_1058del). This deletion affects an acceptor splice site and is expected to disrupt RNA splicing, likely resulting in an absent or disrupted protein product. This particular deletion has not been reported in the literature in individuals with an AHI1-related disease, but has been observed to segregate with Joubert syndrome in a single family (Invitae). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000556066 | SCV000635095 | pathogenic | Hereditary breast and ovarian cancer syndrome | 2017-06-19 | criteria provided, single submitter | clinical testing | This variant is a partial deletion of exon 3 of the BRCA2 gene, including the exon 3 / intron 3 donor splice site (c.277_317-726delinsCCAT). This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000540293 | SCV000635097 | pathogenic | Hereditary breast and ovarian cancer syndrome | 2017-08-23 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exons 5-7 of the BRCA2 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with BRCA2-related disease. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000557636 | SCV000635101 | likely pathogenic | Hereditary breast and ovarian cancer syndrome | 2017-03-21 | criteria provided, single submitter | clinical testing | This variant is a gross duplication of the genomic region encompassing exons 12-13 of the BRCA2 gene. While the exact position of the duplicated exons cannot be determined from this data, the duplicated copy of this region is likely in tandem and may result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). In summary, sub-genic duplications are generally in tandem (PMID: 25640679), and result in an absent or disrupted protein. However, the exact location of this duplication has not been confirmed. Therefore, it has been classified as Likely Pathogenic. |
| Invitae | RCV000545391 | SCV000636113 | benign | Nephronophthisis | 2017-02-10 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000540926 | SCV000637350 | pathogenic | Joubert syndrome; Orofaciodigital syndrome I | 2017-04-08 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the OFD1 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Whole gene deletions of OFD1 have been reported in two unrelated individuals with oral-facial-digital syndrome (PMID: 23033313) and one individual with ventriculomegaly and agenesis of the corpus callosum (PMID: 24476948). Since the deletion in this female individual extends beyond OFD1, it is possible that a large rearrangement on the X chromosome may be responsible for the phenotype rather than loss of OFD1 alone. In summary, this gross deletion eliminates one copy of the OFD1 gene and similar deletions have been reported in affected individuals. For these reasons, this deletion has been classified as Pathogenic. |
| Invitae | RCV000526179 | SCV000637867 | uncertain significance | Hereditary Paraganglioma-Pheochromocytoma Syndromes | 2017-11-03 | criteria provided, single submitter | clinical testing | A gross duplication of the genomic region encompassing the full coding sequence of the TMEM127 gene has been identified. The boundaries of this event are unknown as the duplication extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this duplication is unknown, it may be in tandem or it may be located elsewhere in the genome. This variant has not been reported in the literature in individuals with TMEM127-related disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Invitae | RCV000548121 | SCV000638403 | pathogenic | Myoclonic dystonia | 2016-05-02 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 6-9 of the SGCE gene. This leads to an in-frame deletion, preserving the integrity of the reading frame. Gross deletions of SGCE are known to be pathogenic.  A similar copy number change has been reported in an individual with myclonus dystonia (PMID: 19066193). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000534213 | SCV000638448 | uncertain significance | Neuronopathy, distal hereditary motor, type viia; Myasthenic syndrome, congenital, 20, presynaptic | 2017-07-05 | criteria provided, single submitter | clinical testing | A gross duplication of the genomic region encompassing the full coding sequence of the SLC5A7 gene has been identified. The boundaries of this event are unknown as the duplication extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this duplication is unknown, it may be in tandem or it may be located elsewhere in the genome. This duplication has not been reported in the literature in individuals with SLC5A7-related disease. Experimental studies are not available for this duplication and the functional significance of an additional copy of this gene is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Invitae | RCV000528877 | SCV000638530 | uncertain significance | Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Mental retardation, autosomal dominant 9 | 2016-09-23 | criteria provided, single submitter | clinical testing | This variant is a gross duplication of the genomic region encompassing exons 38 to 46 of the KIF1A gene. The 5' boundary is likely confined to intron 37. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals with a KIF1A-related disease, and its frequency in the general population is not known. In summary, because the exact 3' boundary of this variant has not been determined, and whether this duplication occurs in tandem is not known, the impact of this duplication on KIF1A protein function can not be established. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Invitae | RCV000534639 | SCV000638531 | benign | Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Mental retardation, autosomal dominant 9 | 2018-01-03 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000524974 | SCV000639529 | pathogenic | Capillary malformation-arteriovenous malformation 1 | 2017-10-18 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 1-9 of the RASA1 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 9 of the RASA1 gene. This is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000558513 | SCV000639708 | uncertain significance | Biotin-thiamine-responsive basal ganglia disease | 2017-04-07 | criteria provided, single submitter | clinical testing | A gross duplication of the genomic region encompassing the full coding sequence of the SLC19A3 gene has been identified. The boundaries of this event are unknown as the duplication extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this duplication is unknown, it may be in tandem or it may be located elsewhere in the genome. Whole gene duplications of SLC19A3 have not been reported in the literature in individuals with a SLC19A3-related disease. In summary, the exact genomic location of this variant is unknown and the impact of this duplication on SLC19A3 protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Invitae | RCV000551540 | SCV000640980 | pathogenic | Multiple exostoses type 2 | 2018-01-24 | criteria provided, single submitter | clinical testing | This variant is an in-frame deletion of the genomic region encompassing exon 8 of the EXT2 gene. It preserves the integrity of the reading frame. Deletions of exon 8 have been reported in several individuals with multiple osteochondromas (PMID: 18165274, 19810120). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000545713 | SCV000640994 | uncertain significance | Aortic aneurysm, familial thoracic 4 | 2017-05-10 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the MYH11 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals with a MYH11-related disease. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in MYH11 cause disease. Therefore, this variant has been classified as a Variant of Uncertain Significance. |
| Invitae | RCV000536086 | SCV000641692 | pathogenic | Lethal multiple pterygium syndrome | 2016-12-14 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 5-9 of the CHRNA1 gene. The 5' boundary is likely confined to intron 4. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. While this particular variant has not been reported in the literature, truncating variants in CHRNA1 are known to cause autosomal recessive congenital myasthenic syndrome (PMID: 14719537). This truncation eliminates multiple conserved functional regions (transmembrane, cytoplasmic) of the CHRNA1 protein (PMID: 25348405, 22728938) and a high percentage of previously reported CHRNA1 missense mutations have been found in the truncated region (PMID: 14719537, 27748205, 10195214). These observations suggest that this truncation will result in a non-functional CHRNA1 protein product. For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000551394 | SCV000641856 | pathogenic | Mowat-Wilson syndrome | 2017-07-13 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon 2 of the ZEB2 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 2 of the ZEB2 gene. This is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with ZEB2-related disease. Loss-of-function variants in ZEB2 are known to be pathogenic (PMID: 16053902). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000540097 | SCV000642053 | likely benign | Neuropathy, hereditary motor and sensory, Okinawa type; Spastic paraplegia 57, autosomal recessive | 2017-12-29 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000528294 | SCV000642112 | likely pathogenic | Ataxia-telangiectasia-like disorder 1 | 2017-10-14 | criteria provided, single submitter | clinical testing | This variant is a gross duplication of the genomic region encompassing exons 6-7 of the MRE11 gene. While the exact position of the duplicated exons cannot be determined from this data, the duplicated copy of this region is likely in tandem and may result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with MRE11-related disease. Sub-genic duplications are generally in tandem (PMID: 25640679), and result in an absent or disrupted protein. Loss-of-function variants in MRE11 are known to be pathogenic (PMID: 23080121, 23912341). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
| Invitae | RCV000530985 | SCV000642208 | uncertain significance | Spastic paraplegia 11, autosomal recessive | 2018-03-14 | criteria provided, single submitter | clinical testing | This variant is a gross duplication of the genomic region encompassing exons 31-32 of the SPG11 gene. While the exact position of the duplicated exons cannot be determined from this data, the duplicated copy of this region is likely in tandem and in-frame, therefore preserving the integrity of the reading frame. Duplications of exons 31-32 have not been reported in the literature in individuals with a SPG11-related disease. In summary, the exact genomic location of this variant is unknown and the impact of this duplication on SPG11 protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Invitae | RCV000526440 | SCV000644138 | pathogenic | 3-methylcrotonyl CoA carboxylase 2 deficiency | 2017-05-05 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exons 7-14 of the MCCC2 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss of function variants in MCCC2 are known to be pathogenic (PMID: 16010683). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000526208 | SCV000644198 | pathogenic | Tuberous sclerosis 2 | 2018-06-18 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon 2 of the TSC2 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 2 of the TSC2 gene. This is expected to result in an absent or disrupted protein product. Loss-of-function variants including gross deletions in TSC2 are known to be pathogenic. Similar deletions encompassing at least exon 2, also known as exon 1 in the literature, have been reported in individuals with tuberous sclerosis complex (PMID: 17287951, 25664948, 21520333). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000549978 | SCV000644698 | pathogenic | Cerebral cavernous malformation | 2017-04-25 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 5-18 of the KRIT1 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 18 of the KRIT1 gene. This is expected to result in an absent or disrupted protein product. While this particular gross deletion has not been reported in the literature, loss-of-function variants in KRIT1 are known to be pathogenic (PMID: 12404106, 23595507). A similar gross deletion has been reported in an individual affected with cerebral cavernous malformations (PMID: 23595507). In that study, this gene is referred to as CCM1, and the event is described as a deletion of exons 1-17 relative to the alternative transcript, NM_004912.3. Because the 5' end of this event extends beyond the assayed region for this gene, it is unclear if the number of deleted untranslated exons are the same, nor whether there are additional intergenic sequence deleted. However, the deleted coding regions are the same between this previously published variant and the event observed in this individual. For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000538692 | SCV000644700 | likely pathogenic | Cerebral cavernous malformation | 2017-04-18 | criteria provided, single submitter | clinical testing | This variant is a gross duplication of the genomic region encompassing exons 7-9 of the KRIT1 gene. While the exact position of the duplicated exons cannot be determined from this data, the duplicated copy of this region is likely in tandem and may result in an absent or disrupted protein product. This variant  has not been reported in the literature in individuals with a KRIT1-related disease. In summary, sub-genic duplications are generally in tandem (PMID: 25640679), and result in an absent or disrupted protein. However, the exact location of this duplication has not been confirmed. Therefore, it has been classified as Likely Pathogenic. |
| Invitae | RCV000550940 | SCV000645156 | likely pathogenic | Majeed syndrome | 2016-08-11 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 7-18 of the LPIN2 gene. This leads to an in-frame deletion, preserving the integrity of the reading frame. This deletion disrupts the DXDXT and LXXIL motifs that are known to be key for protein function in another member of the Lipin family of proteins, LPIN1 (PMID: 16950137, 19369868). For these reasons, this variant has been classified as Likely Pathogenic. |
| Invitae | RCV000535358 | SCV000645335 | pathogenic | Spastic paraplegia 4, autosomal dominant | 2017-06-29 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 1-7 of the SPAST gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 7 of the SPAST gene. This is expected to result in an absent or disrupted protein product. This variant has been reported in an individual affected with hereditary spastic paraplegia. It was also found in an unaffected relative, potentially representing a case of incomplete penetrance (PMID: 17035675). Loss-of-function variants in SPAST are known to be pathogenic (PMID: 20932283). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000543564 | SCV000645336 | pathogenic | Spastic paraplegia 4, autosomal dominant | 2018-05-18 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the SPAST gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Loss-of-function variants in SPAST are known to be pathogenic (PMID: 20932283). This particular gene deletion has been reported in the literature in multiple individuals and families affected with hereditary spastic paraplegia (PMID: 17098887, 25421405). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000560513 | SCV000645337 | pathogenic | Spastic paraplegia 4, autosomal dominant | 2017-03-01 | criteria provided, single submitter | clinical testing | This variant is an in-frame deletion of the genomic region encompassing exons 8-9 of the SPAST gene. It preserves the integrity of the reading frame. This variant has been reported in multiple unrelated individuals affected with hereditary spastic paraplegia (PMID: 19423133, 25065914). It has also been reported to segregate with autosomal dominant hereditary spastic paraplegia in a single family (PMID: 19423133). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000535157 | SCV000645338 | pathogenic | Spastic paraplegia 4, autosomal dominant | 2017-03-14 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 10-11, and part of exon 12 of the SPAST gene. The 5' boundary is likely confined to intron 9. The 3' end of this event is located at position c.1477 in exon 12 (chr2:32362241). This likely creates a premature stop signal and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in SPAST are known to be pathogenic (PMID: 20932283). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000559835 | SCV000645374 | pathogenic | Parkinson disease 2 | 2018-04-26 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exon 3 of the PARK2 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. A similar deletion of exon 3 has been reported in multiple individuals and families affected with early onset Parkinson's disease (PMID: 25833766, 19715670, 23880019). Loss-of-function variants in PARK2 are known to be pathogenic (PMID: 10072423, 20301651, 22956510). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000531632 | SCV000645375 | pathogenic | Parkinson disease 2 | 2017-12-22 | criteria provided, single submitter | clinical testing | This variant is an in-frame deletion of the genomic region encompassing exons 2-3 of the PARK2 gene. It preserves the integrity of the reading frame. This variant has been reported in the compound heterozygous state in several individuals affected with early-onset Parkinson's disease (PMID: 21215313, 17914726, 23880019, 10824074). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000539770 | SCV000645387 | pathogenic | Griscelli syndrome type 2 | 2018-02-12 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 2-4 of the RAB27A gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 4 of the RAB27A gene. This is expected to result in an absent or disrupted protein product. Deletion of exons 2-4 of RAB27A has been reported in the literature in an individual affected with hemophagocytic lymphohistiocytosis (PMID: 23160464). Loss-of-function variants in RAB27A are known to be pathogenic (PMID: 10835631, 23160464). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000532000 | SCV000645458 | likely pathogenic | Limb-girdle muscular dystrophy, type 2A | 2017-04-18 | criteria provided, single submitter | clinical testing | This variant is an in-frame deletion of the genomic region encompassing exons 17-19 of the CAPN3 gene. It preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals with a CAPN3-related disease. This deletion removes a calcium binding EF hand domain of the calpain 3 protein. The proper binding of calcium has been reported to be necessary for proper protease function (PMID: 24846670). A missense mutation (p.Asp705Gly) located at an amino acid residue that binds calcium has been reported to be pathogenic and is located within this deleted region (PMID: 15138196, 21624972).  This suggests that the deleted region is critical for proper CAPN3 protein function In summary, this variant is a novel gross deletion that removes a region of the gene that is functionally important. This evidence indicates that the variant is pathogenic, but additional data is needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
| Invitae | RCV000558868 | SCV000645540 | pathogenic | PTEN hamartoma tumor syndrome | 2017-06-30 | criteria provided, single submitter | clinical testing | This variant is an in-frame deletion of the genomic region encompassing exon 8 of the PTEN gene. It preserves the integrity of the reading frame. Deletion of exon 8 has been reported in an individual affected with Cowden or Cowden-like syndrome (PMID: 25669429). This variant is expected to result in the deletion of 75 amino acids (Asp268-Lys342) of the PTEN protein. This removes most of the C2 domain (amino acid residues 186-351), which contains several critical phosphorylation, ubiquitylation, and SUMOylation sites for regulating PTEN protein cellular location and function (PMID: 25448482, 25336918, 24905788). No functional studies have been performed to test the effects of this variant. However, experimental studies have shown that substitutions of key amino acid residues in this region affect the cellular location and function of the PTEN protein (PMID: 22713753, 11948419, 24905788), suggesting that deletion of this region of the PTEN protein is causative of disease. For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000534404 | SCV000645962 | likely pathogenic | Epilepsy, childhood absence 2; Familial febrile seizures 8 | 2017-03-28 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 7-9 of the GABRG2 gene. The 5' boundary is likely confined to intron 7. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. This variant has not been reported in the literature, however, a few different truncating mutations that escape nonsense mediated decay have been determined to be pathogenic (PMID: 18566737, 23720301). Experimental studies have shown that those truncations resulted in truncated GABRG2 protein with loss of protein function, as well as varying degrees of dominant negative effect. In summary, this variant is a gross deletion that is not anticipated to result in nonsense mediated decay. Similar truncating mutations have been shown to be pathogenic, possibly through a dominant negative mechanism. However, the functional consequence of this particular deletion has not been studied. For these reasons, this variant has been classified as Likely Pathogenic. |
| Invitae | RCV000543941 | SCV000646080 | uncertain significance | Progressive familial heart block type 1B | 2018-01-04 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000525016 | SCV000646342 | uncertain significance | Epilepsy, progressive myoclonic 3 | 2016-08-08 | criteria provided, single submitter | clinical testing | This variant is a gross duplication of the genomic region encompassing exons 3-4 of the KCTD7 gene. The 5' boundary is likely confined to intron 2. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals with a KCTD7-related disease. In summary, this variant is a sub-genic duplication encompassing the last 2 exons of KCTD7. The exact location of this duplication has not been confirmed, and its affect on KCTD7 protein function is unknown. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Invitae | RCV000535350 | SCV000647147 | pathogenic | Familial adenomatous polyposis 1 | 2017-03-30 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing promoter 1B, promoter 1A and exons 2-6 of the APC gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 6 of the APC gene. This is expected to result in an absent or disrupted protein product. While this particular deletion has not been reported in the literature, exon-level deletions and loss-of-function variants in APC are known to be pathogenic (PMID: 20685668, 17963004). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000534711 | SCV000647150 | likely pathogenic | Familial adenomatous polyposis 1 | 2017-02-17 | criteria provided, single submitter | clinical testing | This variant is a gross duplication of the genomic region encompassing exons 2-4 of the APC gene. The 5' end of this event is likely confined to intron 1 of the APC gene. The 3' boundary is likely confined to intron 4 of the APC gene. While the exact position of the duplicated exons cannot be determined from this data, the duplicated copy of this region is likely in tandem and may result in an absent or disrupted protein product. While this particular duplication has not been reported in the literature, loss-of-function variants including gross alterations in APC are known to be pathogenic (PMID: 23159591). In summary, sub-genic duplications are generally in tandem (PMID: 25640679), and result in an absent or disrupted protein. However, the exact location of this duplication has not been confirmed. Therefore, it has been classified as Likely Pathogenic. |
| Invitae | RCV000548705 | SCV000647154 | pathogenic | Familial adenomatous polyposis 1 | 2018-03-15 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 12-16 of the APC gene. The 5' boundary is likely confined to intron 11. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. Deletions encompassing exons 12-16, also known as exons 11-15 in the literature, have been reported in individuals and families affected with familial adenomatous polyposis (PMID: 20223039, 16736293, 18487285). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000544295 | SCV000648493 | uncertain significance | Hereditary sensory and autonomic neuropathy type IIB | 2017-07-28 | criteria provided, single submitter | clinical testing | This variant is a gross duplication of the genomic region encompassing exons 5-9 of the FAM134B gene. The 5' boundary is likely confined to intron 4. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The exact location of this variant in the genome is unknown. This duplication has not been reported in the literature in individuals with FAM134B-related disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Invitae | RCV000548052 | SCV000648588 | uncertain significance | Neuroblastoma 3 | 2017-04-10 | criteria provided, single submitter | clinical testing | This variant is a gross duplication of the genomic region encompassing exons 5 to 29 of the ALK gene. The 5' boundary is likely confined to intron 4. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals with an ALK-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acids is currently unknown. In summary, the exact genomic location of this variant is unknown and the impact of this duplication on ALK protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Invitae | RCV000554144 | SCV000649258 | uncertain significance | Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 | 2017-08-14 | criteria provided, single submitter | clinical testing | This variant is an in-frame deletion of the genomic region encompassing exons 22-24 of the SCN9A gene. It preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals with SCN9A-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Invitae | RCV000533008 | SCV000649259 | uncertain significance | Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 | 2017-07-29 | criteria provided, single submitter | clinical testing | This variant is an in-frame deletion of the genomic region encompassing exon 23 of the SCN9A gene. It preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals with SCN9A-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Invitae | RCV000547325 | SCV000650689 | uncertain significance | Idiopathic fibrosing alveolitis, chronic form; Dyskeratosis congenita, autosomal dominant, 2 | 2017-03-30 | criteria provided, single submitter | clinical testing | This variant is a gross duplication of the genomic region encompassing exons 7-16 of the TERT gene. The 5' boundary is likely confined to intron 6. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. This gross duplication has not been reported in the literature in an individual with TERT-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acids is currently unknown. In summary, the exact genomic location of this variant is unknown and the impact of this duplication on TERT protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance |
| Invitae | RCV000527830 | SCV000650882 | uncertain significance | Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26; Dilated Cardiomyopathy, Dominant | 2017-01-24 | criteria provided, single submitter | clinical testing | This variant is a gross duplication of the genomic region encompassing exon 47 of the FLNC gene. While the exact position of the duplicated exon cannot be determined from this data, the duplicated copy of this region is likely in tandem and in-frame, therefore preserving the integrity of the reading frame. This variant has not been reported in the literature in an individual with a FLNC-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acids is currently unknown. In summary, the exact genomic location of this variant is unknown and the impact of this duplication on FLNC protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Invitae | RCV000526488 | SCV000652208 | pathogenic | Rigidity and multifocal seizure syndrome, lethal neonatal | 2017-11-01 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 2-4 of the BRAT1 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 4 of the BRAT1 gene. This is expected to result in an absent or disrupted protein product. This deletion has not been reported in the literature in individuals with BRAT1-related disease. Loss-of-function variants in BRAT1 are known to be pathogenic (PMID: 22279524, 25500575). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000550477 | SCV000652333 | pathogenic | Epileptic encephalopathy, early infantile, 1; Spinocerebellar ataxia, autosomal recessive 12 | 2017-07-21 | criteria provided, single submitter | clinical testing | This variant is a gross duplication of the genomic region encompassing most of exon 6 of the WWOX gene, including the intron 5-exon 6 boundary (c.517-68114_597dup). The duplicated copy of this region is in tandem. This likely creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in WWOX are known to be pathogenic (PMID: 25411445). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000528181 | SCV000652334 | likely pathogenic | Epileptic encephalopathy, early infantile, 1; Spinocerebellar ataxia, autosomal recessive 12 | 2017-07-14 | criteria provided, single submitter | clinical testing | This variant is an in-frame deletion of the genomic region encompassing exon 7 of the WWOX gene. It preserves the integrity of the reading frame. This variant has been reported to segregate with epilepsy and developmental delay in a single family (Invitae). This deletion removes a portion of the WWOX gene that encodes the short-chain dehydrogenase (SDR) domain of the WWOX protein. While experimental studies have not been performed on this particular deletion, functional studies of larger deletions of the SDR domain (exons 5-8 and exons 6-8) have been shown to cause cellular mislocalization of the WWOX protein (PMID: 11719429). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
| Invitae | RCV000529419 | SCV000652572 | pathogenic | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7; Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7 | 2016-12-05 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon 2 of the ISPD gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in ISPD are known to be pathogenic (PMID: 22522421). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000552669 | SCV000652820 | uncertain significance | Spinal muscular atrophy, distal, autosomal recessive, 5 | 2017-06-05 | criteria provided, single submitter | clinical testing | This variant is a gross duplication of the genomic region encompassing exon 10 of the DNAJB2 gene. The 5' boundary is likely confined to intron 9. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes.  There is evidence that this duplication is in tandem. This duplication has not been reported in the literature in individuals with a DNAJB2-related disease. Experimental studies are not available for this copy number variant, and the functional significance of the duplicated exon is currently unknown. In summary, this is a tandem duplication with uncertain impact on DNAJB2 function.  The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Invitae | RCV000526537 | SCV000652832 | uncertain significance | Combined oxidative phosphorylation deficiency 14 | 2017-06-06 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon 2 of the FARS2 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 2 of the FARS2 gene. This is expected to result in an absent or disrupted protein product. A similar gross deletion has been reported in the literature in an individual affected with early-infantile-encephalopathy with epilepsy (PMID: 27549011). The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in FARS2 cause disease. Therefore, this variant has been classified as a Variant of Uncertain Significance. |
| Invitae | RCV000552282 | SCV000652857 | uncertain significance | Joubert syndrome 20; Meckel syndrome, type 11 | 2017-06-07 | criteria provided, single submitter | clinical testing | This variant is a gross duplication of the genomic region encompassing exons 4-6 of the TMEM231 gene. The 5' boundary is likely confined to intron 3. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The exact genomic location of this variant is unknown. Gross duplications have not been reported in the literature in individuals with a TMEM231-related disease. In summary, this variant has uncertain impact on TMEM231 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Invitae | RCV000540899 | SCV000654659 | pathogenic | Ciliary dyskinesia, primary, 28 | 2017-08-21 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon 2 of the SPAG1 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass the non-coding exon 1 and/or additional genes. The 3' boundary is likely confined to intron 2 of the SPAG1 gene. This is expected to result in an absent or disrupted protein product. Loss-of-function variants in SPAG1 are known to be pathogenic. A deletion that includes the non-coding exon 1 and exon 2 has been reported in individuals affected with primary ciliary dyskinesia (PMID: 27637300, 24055112). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000530783 | SCV000654833 | uncertain significance | Arrhythmogenic right ventricular dysplasia, familial, 13 | 2017-04-07 | criteria provided, single submitter | clinical testing | This variant is a gross duplication of the genomic region encompassing exon 7 of the CTNNA3 gene. While the exact position of the duplicated exons cannot be determined from this data, the duplicated copy of this region is likely in tandem and in-frame, therefore preserving the integrity of the reading frame. This variant has not been reported in the literature in individuals with a CTNNA3-related disease. In summary, the exact genomic location of this variant is unknown and the impact of this duplication on CTNNA3 protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Invitae | RCV000560390 | SCV000655110 | uncertain significance | Melanoma, cutaneous malignant, susceptibility to, 10 | 2017-07-28 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 5-7 of the POT1 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 7 of the POT1 gene. This is expected to result in an absent or disrupted protein product. This deletion has not been reported in the literature in individuals with POT1-related disease. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in POT1 cause disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Invitae | RCV000530585 | SCV000656556 | pathogenic | Pena-Shokeir syndrome type I; Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency | 2017-05-16 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exon 6 of the MUSK gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in MUSK are known to be pathogenic (PMID: 24122059). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000539865 | SCV000656966 | uncertain significance | Bethlem myopathy 1 | 2016-10-09 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 41-42 of the COL6A3 gene. This leads to an in-frame deletion, preserving the integrity of the reading frame. This variant has not been reported in the literature in an individual with a COL6A3-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. In summary, the impact of this deletion on COL6A3 protein function has not been established. Therefore, it has been classified as a Variant of Unknown Significance. |
| Invitae | RCV000551346 | SCV000656967 | uncertain significance | Bethlem myopathy 1 | 2017-06-16 | criteria provided, single submitter | clinical testing | This variant is an in-frame deletion of the genomic region encompassing part of exon 9 and all of exons 10-14 of the COL6A3 gene (c.3859_6063+507). It preserves the integrity of the reading frame. This deletion has not been reported in the literature in individuals with a COL6A3-related disease. In summary, this variant has uncertain impact on COL6A3 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Invitae | RCV000534493 | SCV000657478 | uncertain significance | Familial colorectal cancer | 2018-05-04 | criteria provided, single submitter | clinical testing | This variant results in a copy number gain of the genomic region encompassing the promoter of the GREM1 gene. The precise boundaries of this event are unknown. Two different tandem duplications (40 kb and 16 kb) spanning the 3' end of the SCG5 gene and the region upstream of the GREM1 gene have been reported in families with hereditary mixed polyposis syndrome (PMID: 22561515, 25992589, 26493165). However, the variant identified in this individual extends further upstream of those variants, and the impact of the additional duplicated sequences on GREM1 expression and function has not been established. In summary, duplications of the GREM1 promoter region have been reported in individuals with hereditary mixed polyposis syndrome. However, the 5' boundary of this particular variant in this individual extends further upstream of those two other duplications, and therefore the consequence of this particular variant is currently unknown. For these reasons, it has been classified as a Variant of Uncertain Significance. |
| Invitae | RCV000557666 | SCV000657480 | pathogenic | Cornelia de Lange syndrome 1 | 2017-02-27 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exon 34 of the NIPBL gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. While this particular deletion has not been reported in the literature, loss-of-function variants, including gross deletions, in NIPBL are known to be pathogenic (PMID: 24038889). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000550726 | SCV000657482 | likely pathogenic | Cornelia de Lange syndrome 1 | 2016-10-31 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing most of exons 37 to 39 of the NIPBL gene. The 5' breakpoint of this deletion is 3 nucleotides from the beginning of exon 37, and the 3' breakpoint is within intron 39. This deletion is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with a NIPBL-related disease. Multiple different missense substitutions (p.Leu2144Phe, p.Thr2146Pro, p.Leu2150Pro, p.Tyr2216Ser, p.Asn2236Ile) at codons within exons 37-39 have been classified as pathogenic (PMID: 17106445, 20358602, 15591270, 26701315, 24635725). This suggests that these residues are critical for NIPBL protein function, and that deletion of this region is deleterious. In summary, this is a novel deletion that eliminates important amino acid residues. This evidence indicates that the variant is pathogenic, but additional data is needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
| Invitae | RCV000554601 | SCV000658613 | pathogenic | Laminin alpha 2-related dystrophy | 2017-08-01 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exon 19 of the LAMA2 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in LAMA2 are known to be pathogenic (PMID: 18700894). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000538534 | SCV000658615 | pathogenic | Laminin alpha 2-related dystrophy | 2016-11-30 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 56 of the LAMA2 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Loss-of-function variants in LAMA2 are known to be pathogenic. A deletion encompassing exon 56, c.7750-1713_7899-2153del, has been reported in multiple individuals affected with congenital muscular dystrophy (PMID: 18700894). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000558514 | SCV000658808 | uncertain significance | Thoracic aortic aneurysm and aortic dissection | 2018-01-19 | criteria provided, single submitter | clinical testing | This variant is a gross duplication of the genomic region encompassing exons 6-9 of the SMAD3 gene. The 5' boundary is likely confined to intron 5. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals with SMAD3-related disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Invitae | RCV000532443 | SCV000658809 | likely pathogenic | Thoracic aortic aneurysm and aortic dissection | 2017-03-31 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon 9 of the SMAD3 gene. The 5' boundary is likely confined to intron 8. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. This variant has not been reported in the literature in an individual with a SMAD3-related disease. This variant has been found to co-segregate with disease in a family with aortic aneurysm/aortic replacement (Invitae). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. In summary, this variant is a rare deletion with unknown impact on protein function and it has been found to co-segregate with disease in one family. Therefore, this variant has been classified as Likely Pathogenic. |
| Invitae | RCV000556053 | SCV000658945 | likely pathogenic | Treacher Collins syndrome 1 | 2016-07-22 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 24-26 of the TCOF1 gene. The 5' boundary is likely confined to intron 23. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated TCOF1 protein. This variant has not been reported in the literature in individuals with a TCOF1-related disease. Experimental studies have shown that the final 160-190 amino acids of the TCOF1 protein contain nuclear and nucleolar localization signals. Deletion of these residues leads to mislocalization of the protein in cell culture-based assays (PMID: 9811939, 9736782). In summary, this is a novel truncating variant that is expected to disrupt TCOF1 protein localization. However, in the absence of additional functional and/or genetic data, this variant has been classified as Likely Pathogenic. |
| Rare Disease Group, |
RCV000677251 | SCV000681429 | pathogenic | Optic nerve hypoplasia | criteria provided, single submitter | research | SOX5 previously described in Lamb-Schaffer syndrome that sometimes involves optic nerve hypoplasia. This individual also has intellectual disability and heart defects, also reported in Lamb-Schaffer syndrome. Similar deletions of SOX5 causing the same phenotype have been reported, PMID 22290657. | |
| Broad Institute Rare Disease Group, |
RCV000585924 | SCV000693907 | pathogenic | Glycogen storage disease, type II | 2017-06-25 | criteria provided, single submitter | research | PVS1: Identified truncating variant in compound heterozygote with common promoter pathogenic variant. Previously reported in 2 patients in the literature with adult onset GSDII. PM2: Absent from gnomAD (well covered) and PM3: 3 compound heterozygotes with GSDII, including 2 in literature (PMID: 17616415). |
| EGL Genetic Diagnostics, |
RCV000592422 | SCV000703422 | uncertain significance | not provided | 2017-01-09 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV000603650 | SCV000719684 | likely benign | not specified | 2017-05-26 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
| Center for Human Genetics and Laboratory Diagnostics, |
RCV000624863 | SCV000740317 | pathogenic | Spherocytosis type 2 | 2018-03-29 | criteria provided, single submitter | clinical testing | |
| Equipe Genetique des Anomalies du Developpement, |
RCV000627115 | SCV000747919 | likely pathogenic | Autistic behavior; Severe global developmental delay | 2012-12-17 | criteria provided, single submitter | clinical testing | |
| Equipe Genetique des Anomalies du Developpement, |
RCV000627116 | SCV000747920 | likely pathogenic | Autistic behavior; Severe global developmental delay | 2017-04-30 | criteria provided, single submitter | clinical testing | |
| Equipe Genetique des Anomalies du Developpement, |
RCV000627117 | SCV000747921 | likely pathogenic | Autistic behavior; Moderate global developmental delay | 2017-05-27 | criteria provided, single submitter | clinical testing | |
| Department of Psychiatry, |
RCV000754118 | SCV000777921 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754119 | SCV000777922 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754120 | SCV000777923 | likely pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754121 | SCV000777924 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754122 | SCV000777925 | likely pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754123 | SCV000777926 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754124 | SCV000777927 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754125 | SCV000777928 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754126 | SCV000777929 | pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754127 | SCV000777930 | pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754128 | SCV000777931 | pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754129 | SCV000777932 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754130 | SCV000777933 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754131 | SCV000777934 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754132 | SCV000777935 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754133 | SCV000777936 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754134 | SCV000777937 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754135 | SCV000777938 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754136 | SCV000777939 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754137 | SCV000777940 | likely pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754138 | SCV000777941 | likely pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754139 | SCV000777942 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754140 | SCV000777943 | likely pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754141 | SCV000777944 | likely pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754142 | SCV000777945 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754143 | SCV000777946 | likely pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754144 | SCV000777947 | likely pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754145 | SCV000777948 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754146 | SCV000777949 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754147 | SCV000777950 | pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754148 | SCV000777951 | pathogenic | Autistic disorder of childhood onset; Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754149 | SCV000777952 | pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754150 | SCV000777953 | pathogenic | Autistic disorder of childhood onset; Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754151 | SCV000777954 | pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754152 | SCV000777955 | pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754153 | SCV000777956 | pathogenic | Autistic disorder of childhood onset; Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754154 | SCV000777957 | pathogenic | Autistic disorder of childhood onset; Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754155 | SCV000777958 | pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754156 | SCV000777959 | pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754157 | SCV000777960 | pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754158 | SCV000777961 | likely pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754159 | SCV000777962 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754160 | SCV000777963 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754161 | SCV000777964 | pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754162 | SCV000777965 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754163 | SCV000777966 | pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754164 | SCV000777967 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754165 | SCV000777968 | pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754166 | SCV000777969 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754167 | SCV000777970 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754168 | SCV000777971 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754169 | SCV000777972 | pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754170 | SCV000777973 | pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754171 | SCV000777974 | pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754172 | SCV000777975 | pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754173 | SCV000777976 | pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754174 | SCV000777977 | pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754175 | SCV000777978 | pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754176 | SCV000777979 | pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754177 | SCV000777980 | pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754178 | SCV000777981 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754179 | SCV000777982 | likely pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754180 | SCV000777983 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754181 | SCV000777984 | pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754182 | SCV000777985 | pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754183 | SCV000777986 | pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754184 | SCV000777987 | pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754185 | SCV000777988 | pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754186 | SCV000777989 | pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754187 | SCV000777990 | pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754188 | SCV000777991 | pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754189 | SCV000777992 | pathogenic | Autistic disorder of childhood onset; Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754190 | SCV000777993 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754191 | SCV000777994 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754192 | SCV000777995 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754193 | SCV000777996 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754194 | SCV000777997 | likely pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754195 | SCV000777998 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754196 | SCV000777999 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754197 | SCV000778000 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754198 | SCV000778001 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754199 | SCV000778002 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754200 | SCV000778003 | likely pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754201 | SCV000778004 | pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754202 | SCV000778005 | pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754203 | SCV000778006 | pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754204 | SCV000778007 | pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754205 | SCV000778008 | likely pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754206 | SCV000778009 | pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754207 | SCV000778010 | likely pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754208 | SCV000778011 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754209 | SCV000778012 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754210 | SCV000778013 | likely pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754211 | SCV000778014 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754212 | SCV000778015 | likely pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754213 | SCV000778016 | likely pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754214 | SCV000778017 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754215 | SCV000778018 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754216 | SCV000778019 | likely pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754217 | SCV000778020 | likely pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754218 | SCV000778021 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754219 | SCV000778022 | likely pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754220 | SCV000778023 | likely pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754221 | SCV000778024 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754222 | SCV000778025 | likely pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754223 | SCV000778026 | likely pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754224 | SCV000778027 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754225 | SCV000778028 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754226 | SCV000778029 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754227 | SCV000778030 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754228 | SCV000778031 | likely pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754229 | SCV000778032 | likely pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754230 | SCV000778033 | pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754231 | SCV000778034 | pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754232 | SCV000778035 | pathogenic | Autistic disorder of childhood onset; Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754233 | SCV000778036 | pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754234 | SCV000778037 | pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754235 | SCV000778038 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754236 | SCV000778039 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754237 | SCV000778040 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754238 | SCV000778041 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754239 | SCV000778042 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754240 | SCV000778043 | pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754241 | SCV000778044 | pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754242 | SCV000778045 | pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754243 | SCV000778046 | pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754244 | SCV000778047 | pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754245 | SCV000778048 | pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754246 | SCV000778049 | pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754247 | SCV000778050 | pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754248 | SCV000778051 | pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754249 | SCV000778052 | pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754250 | SCV000778053 | pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754251 | SCV000778054 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754252 | SCV000778055 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754253 | SCV000778056 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754254 | SCV000778057 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754255 | SCV000778058 | likely pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754256 | SCV000778059 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754257 | SCV000778060 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754258 | SCV000778061 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754259 | SCV000778062 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754260 | SCV000778063 | likely pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754261 | SCV000778064 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754262 | SCV000778065 | pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754263 | SCV000778066 | pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754264 | SCV000778067 | pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754265 | SCV000778068 | pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754266 | SCV000778069 | pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754267 | SCV000778070 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754268 | SCV000778071 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754269 | SCV000778072 | likely pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754270 | SCV000778073 | likely pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754271 | SCV000778074 | likely pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754272 | SCV000778075 | likely pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754273 | SCV000778076 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754274 | SCV000778077 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754275 | SCV000778078 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754276 | SCV000778079 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754277 | SCV000778080 | likely pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754278 | SCV000778081 | pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754279 | SCV000778082 | pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754280 | SCV000778083 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754281 | SCV000778084 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754282 | SCV000778085 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754283 | SCV000778086 | likely pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754284 | SCV000778087 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754285 | SCV000778088 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754286 | SCV000778089 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754287 | SCV000778090 | likely pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754288 | SCV000778091 | likely pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754289 | SCV000778092 | likely pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754290 | SCV000778093 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754291 | SCV000778094 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754292 | SCV000778095 | likely pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754293 | SCV000778096 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754294 | SCV000778097 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754295 | SCV000778098 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754296 | SCV000778099 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754297 | SCV000778100 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754298 | SCV000778101 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754299 | SCV000778102 | likely pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754300 | SCV000778103 | likely pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754301 | SCV000778104 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754302 | SCV000778105 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754303 | SCV000778106 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754304 | SCV000778107 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754305 | SCV000778108 | likely pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754306 | SCV000778109 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754307 | SCV000778110 | likely pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754308 | SCV000778111 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754309 | SCV000778112 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754310 | SCV000778113 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754311 | SCV000778114 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754312 | SCV000778115 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754313 | SCV000778116 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754314 | SCV000778117 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754315 | SCV000778118 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754316 | SCV000778119 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754317 | SCV000778120 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754318 | SCV000778121 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754319 | SCV000778122 | likely pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754320 | SCV000778123 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754321 | SCV000778124 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754322 | SCV000778125 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754323 | SCV000778126 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754324 | SCV000778127 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754325 | SCV000778128 | likely pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754326 | SCV000778129 | likely pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754327 | SCV000778130 | likely pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754328 | SCV000778131 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754329 | SCV000778132 | likely pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754330 | SCV000778133 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754331 | SCV000778134 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754332 | SCV000778135 | likely pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754333 | SCV000778136 | pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754334 | SCV000778137 | pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754335 | SCV000778138 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754336 | SCV000778139 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754337 | SCV000778140 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754338 | SCV000778141 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754339 | SCV000778142 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754340 | SCV000778143 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754341 | SCV000778144 | likely pathogenic | Autistic disorder of childhood onset; Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754342 | SCV000778145 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754343 | SCV000778146 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754344 | SCV000778147 | likely pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754345 | SCV000778148 | likely pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754346 | SCV000778149 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754347 | SCV000778150 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754348 | SCV000778151 | likely pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754349 | SCV000778152 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754350 | SCV000778153 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754351 | SCV000778154 | likely pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754352 | SCV000778155 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754353 | SCV000778156 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754354 | SCV000778157 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754355 | SCV000778158 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754356 | SCV000778159 | likely pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754357 | SCV000778160 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754358 | SCV000778161 | likely pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754359 | SCV000778162 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754360 | SCV000778163 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754361 | SCV000778164 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754362 | SCV000778165 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754363 | SCV000778166 | likely pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754364 | SCV000778167 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754365 | SCV000778168 | pathogenic | Autistic disorder of childhood onset; Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754366 | SCV000778169 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754367 | SCV000778170 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754368 | SCV000778171 | likely pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754369 | SCV000778172 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754370 | SCV000778173 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754371 | SCV000778174 | likely pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754372 | SCV000778175 | likely pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754373 | SCV000778176 | likely pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754374 | SCV000778177 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754375 | SCV000778178 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754376 | SCV000778179 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754377 | SCV000778180 | likely pathogenic | Schizophrenia | 2018-03-20 | criteria provided, single submitter | research | |
| Department of Psychiatry, |
RCV000754378 | SCV000778181 | likely pathogenic | Autistic disorder of childhood onset | 2018-03-20 | criteria provided, single submitter | research | |
| Medical Cytogenetics and Molecular Genetics Laboratory, |
RCV000754403 | SCV000787664 | uncertain significance | Primary amenorrhea | 2018-06-01 | criteria provided, single submitter | research | |
| Medical Cytogenetics and Molecular Genetics Laboratory, |
RCV000754413 | SCV000787674 | likely benign | Primary amenorrhea | 2018-06-01 | criteria provided, single submitter | research | |
| Medical Cytogenetics and Molecular Genetics Laboratory, |
RCV000754469 | SCV000787730 | uncertain significance | Primary amenorrhea | 2018-06-01 | criteria provided, single submitter | research | |
| Medical Cytogenetics and Molecular Genetics Laboratory, |
RCV000754473 | SCV000787734 | likely benign | Primary amenorrhea | 2018-06-01 | criteria provided, single submitter | research | |
| Medical Cytogenetics and Molecular Genetics Laboratory, |
RCV000754474 | SCV000787735 | uncertain significance | Primary amenorrhea | 2018-06-01 | criteria provided, single submitter | research | |
| Medical Cytogenetics and Molecular Genetics Laboratory, |
RCV000754479 | SCV000787740 | uncertain significance | Primary amenorrhea | 2018-06-01 | criteria provided, single submitter | research | |
| Rare Disease Group, |
RCV000754946 | SCV000788371 | pathogenic | Jeune thoracic dystrophy | 2018-05-01 | criteria provided, single submitter | research | |
| Rare Disease Group, |
RCV000754969 | SCV000788396 | pathogenic | 1q24q25 microdeletion syndrome | 2018-05-01 | criteria provided, single submitter | research | |
| Counsyl | RCV000668947 | SCV000793630 | uncertain significance | Galactosylceramide beta-galactosidase deficiency | 2017-08-25 | criteria provided, single submitter | clinical testing | |
| Counsyl | RCV000669077 | SCV000793779 | uncertain significance | Galactosylceramide beta-galactosidase deficiency | 2017-08-30 | criteria provided, single submitter | clinical testing | |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677149 | SCV000803309 | pathogenic | not provided | 2018-04-03 | criteria provided, single submitter | provider interpretation | This duplication was identified in a 20 year old female with mild intellectual disability, superimposed expressive language disorder, and ADHD symptoms. X-inactivation analysis showed 84:16 ratio, consistent with moderate skewing. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677150 | SCV000803310 | uncertain significance | not provided | 2018-04-03 | criteria provided, single submitter | provider interpretation | This deletion was identified in an 8 year old female with developmental delays, severe superimposed expressive language disorder, uncertain overall intellectual abilities, ventricular septal defect, short stature, and hypertonia. Jaundice and sacral dimple were noted at birth. Notable facial features include: microcephaly, midface hypoplasia, triangular facies, fine hair, high forehead with broad and prominent brow, protruding low-set ears, epicanthus, deep-set eyes, sparse eyebrows, broad nasal root with low bridge, anteverted nares, small nasal tip, thin lips, small mouth, and small chin. She has proximally placed thumbs with small, abnormal nails. Renal ultrasound was normal. Additionally, a de novo, 23.7 Mb duplication on 9p was identified in this patient. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677151 | SCV000803311 | pathogenic | not provided | 2018-04-03 | criteria provided, single submitter | provider interpretation | This duplication was identified in an 8 year old female with developmental delays, severe superimposed expressive language disorder, uncertain overall intellectual abilities, ventricular septal defect, short stature, and hypertonia. Jaundice and sacral dimple were noted at birth. Notable facial features include: microcephaly, midface hypoplasia, triangular facies, fine hair, high forehead with broad and prominent brow, protruding low-set ears, epicanthus, deep-set eyes, sparse eyebrows, broad nasal root with low bridge, anteverted nares, small nasal tip, thin lips, small mouth, and small chin. She has proximally placed thumbs with small, abnormal nails. Renal ultrasound was normal. Additionally, a de novo, 212 kilobase deletion on 9p was identified in this patient. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677152 | SCV000803312 | uncertain significance | not provided | 2018-04-05 | criteria provided, single submitter | provider interpretation | This deletion was identified in a 14 year old male with intellectual disability, phonological disorder, ADHD, disruptive behavior, sleep disturbance, and constipation. Renal ultrasound revealed mild left-sided hydronephrosis, but kidneys were otherwise normal. The deletion was not found in his mother but the father was not available for testing. There is a paternal family history of behavior and developmental problems. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677153 | SCV000803313 | pathogenic | Brain malformations and urinary tract defects | 2018-03-01 | criteria provided, single submitter | provider interpretation | This deletion was identified in an 18 year old female with autism spectrum disorder, learning disorder, macrocephaly, and ADHD. Brain MRI at age 2 months showed thinned and high riding corpus callosum. The same deletion was identified in her younger twin sisters, who are more severely impaired, as well as her mother, who has some learning disability but who lives independently. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677155 | SCV000803315 | uncertain significance | not provided | 2017-03-27 | criteria provided, single submitter | provider interpretation | This duplication was identified in an 11 year old male with mild to moderate intellectual disability, hyperkinesis, atypical stereotypic movement disorder, disruptive behavior, borderline microcephaly (51.40 cm), short stature (2%ile), and dysmorphic features. The duplication was paternally inherited, and the patient's father is unaffected. Of note, this patient also carries a maternally-inherited VUS in EFNB1 and VUS of unknown inheritance in TLK2. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677156 | SCV000803316 | pathogenic | Juvenile polyposis syndrome | 2017-05-01 | criteria provided, single submitter | provider interpretation | This deletion was identified in an 8 year old male with autism spectrum disorder and intellectual disability. The patient has not yet had a colonoscopy or endoscopy but is scheduled to begin that surveillance at age 15. His cardiac evaluation was normal. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677157 | SCV000803317 | likely pathogenic | not provided | 2017-05-01 | criteria provided, single submitter | provider interpretation | This duplication was identified in an 8 year old male with autism spectrum disorder and intellectual disability. Given the size of the duplication, the variant has been classified as likely pathogenic. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677160 | SCV000803320 | uncertain significance | not provided | 2018-03-22 | criteria provided, single submitter | provider interpretation | This approximately 747 kilobase duplication was identified in a male with autism spectrum disorder. This region includes 5 OMIM genes, of which VSP37A and FGF20 have been associated with clinical conditions. Both are associated with autosomal recessive conditions - spastic paraplegia 53 and renal hypoplasia/aplasia 2 respectively. Parental testing has not been completed to date. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677161 | SCV000803321 | uncertain significance | not provided | 2018-04-04 | criteria provided, single submitter | provider interpretation | This 2.6 Mb duplication was identified in a patient with a history of mild intellectual disability, superimposed severe expressive language disorder, congenital heart defect, seizure disorder, and rectal prolapse. The duplication includes approximately 25 known genes. Larger duplications have been reported in individuals with postnatal growth retardation, microcephaly, and characteristic facies (Grossman et al. 2009). This duplication was found to be paternally inherited. The patient's father has a history of speech delay and obesity. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677162 | SCV000803322 | uncertain significance | not provided | 2018-03-22 | criteria provided, single submitter | provider interpretation | This approximately 395 kilobase duplication was identified in a male with a history of microcephaly, congenital lymphedema of the feet, superimposed expressive language disorder, popliteal cysts and intellectual disability. The duplication includes 7 OMIM genes. Two of these genes are associated with known conditions - TUBB2A and TUBB2B. Heterozygous missense variants in TUBB2B are associated with microcephaly, brain abnormalities, developmental delays, intellectual disability, and seizures. Heterozygous missense variants in TUBB2A have been associated with hypotonia, brain abnormlities, seizures, and intellectual disability. The effect of a duplication of these genes is unclear. This duplication was found to be paternally inherited. The patient's father has a reported history of a learning disability and speech delay. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677163 | SCV000803323 | uncertain significance | not provided | 2018-04-03 | criteria provided, single submitter | provider interpretation | This approximately 3.3 Mb deletion was detected in an individual with a history of intellectual disability, dyspraxia, hypotonia, epicanthal folds, long facies with bitemporal narrowing, scoliosis, and increased joint laxity. A smaller, nested deletion was described in a patient with developmental delay, muscle hypotonia, dysmorphic features, and skeletal abnormalities (Shimojima et al. 2009). Several similar deletions have also been submitted to ClinVar (SCV000178752; SCV000175474; SCV000502982; SCV000502982). Parental testing has not been completed to date. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677165 | SCV000803325 | uncertain significance | not provided | 2017-12-01 | criteria provided, single submitter | provider interpretation | This 582 kilobase duplication was identified in an individual with a history of developmental delay with borderline intellectual ability, developmental language impairment, umbilical hernia, and unilateral inguinal hernia. It includes 8 genes: CRLD2, CSF2RA, IL3RA, SLC25A6, ASMTL-AS1, ASMTL, P2RY8, AKAP17A, ASMT. The majority of these genes are not associated with known conditions. The CSF2RA gene is associated with hereditary pulmonary alveolar proteinosis, caused by loss of function of CSF2RA due to gene deletion or protein truncation. The ASMT gene has been implicated as potentially associated with autism spectrum disorders. Several association studies have published a possible increased risk for autism; however, additional studies failed to duplicate this association. Additionally, one publication (Cai et al. 2008) found an interstitial duplication of ASMT at a higher frequency in individuals with autism spectrum disorders compared to controls. This duplication included at least exons 2-8 of ASMT. The significance of entire gene duplications is unclear. Parental testing has not been completed to date. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677169 | SCV000803329 | uncertain significance | not provided | 2018-03-28 | criteria provided, single submitter | provider interpretation | This deletion was identified in a 10 year old male with mild hypotonia, autism spectrum disorder, learning disorder, OCD, ADHD, macrocephaly, borderline to mildly impaired verbal abilities with a large verbal/performance split, and was found to be paternally inherited. Proband's father has a history of depression and ADHD, along with a family history of autism. This deletion is within the RBFOX1 (also known as A2BP1) gene, which has not been clearly associated with human diseases. RBFOX1 has been implicated in a range of neurodevelopmental diseases including forms of epilepsy and autism spectrum disorders. It is not clear whether this deletion is related to the patient's neurodevelopmental history. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677170 | SCV000803330 | uncertain significance | not provided | 2018-03-30 | criteria provided, single submitter | provider interpretation | This duplication was identified in a 13 year old male with borderline intellectual functioning, superimposed expressive communication impairment/verbal apraxia, sleep disturbance, mood lability, irritability, and aggression. Parental testing for this duplication was not completed. Proband is a known carrier of a pathogenic 16p11.2 deletion, to which his symptoms are attributed. Within this duplication three OMIM genes are included; NF2, NEFH, and a portion of EWSR1. The clinical significance of a duplication of these genes is not currently known. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677171 | SCV000803331 | pathogenic | Breast-ovarian cancer, familial 2 | 2018-04-12 | criteria provided, single submitter | provider interpretation | This deletion was identified in a 12 year old male with intellectual disability, autism spectrum disorder, anxiety, and obesity. Parental testing was not completed. This deletion includes three genes, including a portion of BRCA2. The patient's father has a strong family history of breast cancer in individuals under the age of 40 and so the deletion is likely paternally inherited. The father has a history of eye problems (ptosis, pain, diplopia), hypertension, and high cholesterol. Patient has a sister with autism who has not been tested for this deletion. The clinical significance of this deletion for the patient's current symptoms remains unclear at this time. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677172 | SCV000803332 | uncertain significance | not provided | 2018-04-13 | criteria provided, single submitter | provider interpretation | This duplication was identified in a 12 year old male with ADHD, oppositional defiant disorder, and a history of language disorder, and was found to be paternally inherited. The patient's father was born with bilateral polydactyly and a congenital heart anomaly. This duplication includes 4 genes, none of which are currently associated with a known clinical syndrome. DECIPHER reports one individual with a small duplication within this region in an individual with hypotonia, intellectual disability/developmental delay, microcephaly, proportionate short stature, and strabismus. The clinical significance of three copies of these genes remains unclear at this time. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677173 | SCV000803333 | pathogenic | Charcot-Marie-Tooth disease, demyelinating, type 1b; Variegate porphyria; Familial hemiplegic migraine type 2; Paragangliomas 3 | 2018-04-13 | criteria provided, single submitter | provider interpretation | This deletion was identified in a 21 year old female with developmental delays and intellectual disability. Parental testing was not completed. This deletion contains approximately 50 genes including MPZ, PPOX, ATP1A2, and SDHC. She is at risk for developing Charcot-Marie-Tooth syndrome (type 1B, 2I, 2J, and dominant intermediate D), porphyria variegata, Hereditary Paraganglioma and Pheochromocytoma syndrome, and has an increased risk for migraines based on this deletion. Notably, she currently has no muscular symptoms consistent with CMT, nor any skin findings consistent with porphyria. Similar overlapping deletions have been seen in individuals with symptoms included but not limited to: intellectual disability, proportionate short statue, dysmorphic features, bilateral cleft lip/palate, hemiatrophy, hypodysplasia of corpus callosum, IUGR, and complex heart defects. This individual also has 16p11.2 deletion syndrome, identified through chromosomal microarray, which is also likely contributing to her developmental phenotype. |
| Rare Disease Group, |
RCV000754985 | SCV000803395 | uncertain significance | Intestinal malrotation | 2018-06-11 | criteria provided, single submitter | research | |
| Rare Disease Group, |
RCV000754990 | SCV000803400 | pathogenic | Intestinal malrotation | 2018-06-11 | criteria provided, single submitter | research | |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677908 | SCV000804063 | likely pathogenic | Cystinuria | 2016-06-16 | criteria provided, single submitter | provider interpretation | This deletion was identified in a 6 year old female with developmental delays, microcephaly, craniosynostosis, hypertrophic cardiomyopathy, and history of acute lymphoid leukemia in remission. This deletion was inherited from a mother with a history of a kidney stone and the maternal grandfather is reported to have multiple kidney stones. Follow up testing for the proband showed elevated urine amino acids. This result indicates carrier status for cystinuria, at minimum. Additionally, 3 variants of uncertain significance were identified by exome sequencing. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677909 | SCV000804064 | uncertain significance | not provided | 2018-03-19 | criteria provided, single submitter | provider interpretation | This duplication was identified in a 5 year old male with global developmental delay. Brain MRI at age 26 months showed a slightly delayed myelination pattern. Parental testing was not completed. There is a family history of learning and psychiatric illness on both the maternal and paternal side, and a paternal family history of seizures. No facial dysmorphisms were noted. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677910 | SCV000804065 | pathogenic | not provided | 2018-04-03 | criteria provided, single submitter | provider interpretation | This deletion was identified in a 5 year old male with global developmental delays, velopharyngeal insufficiency, VSD, PFO, recurrent otitis media, mild astigmatism, bilateral single transverse palmar creases, narrow left palpebral fissure, full lips, bowed upper lip, and 5th finger clinodactyly. Brain MRI showed mega cisterna magna but was otherwise unremarkable. Parental testing was not completed. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677911 | SCV000804066 | uncertain significance | not provided | 2018-04-03 | criteria provided, single submitter | provider interpretation | This duplication was identified in a 5 year old male with global developmental delays, velopharyngeal insufficiency, VSD, PFO, recurrent otitis media, mild astigmatism, bilateral single transverse palmar creases, narrow left palpebral fissure, full lips, bowed upper lip, and 5th finger clinodactyly. Brain MRI showed mega cisterna magna but was otherwise unremarkable. Parental testing was not completed. Additionally, a 2.478 Mb pathogenic chromosomal deletion was identified in this patient. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677912 | SCV000804067 | uncertain significance | not provided | 2018-04-03 | criteria provided, single submitter | provider interpretation | This duplication was identified in a 6 year old female with slightly upslanted palpebral fissures and autism spectrum disorder. She was born at term with significant issues in the neonatal period including meconium aspiration with respiratory distress, hypotension, metabolic acidosis, HIE, persistent fetal circulation, adrenal hypofunction, thrombocytopenia, and anemia. Parental testing was not available. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677913 | SCV000804068 | uncertain significance | not provided | 2018-02-05 | criteria provided, single submitter | provider interpretation | This deletion was identified in a 5 year old female with autism spectrum disorder, global developmental delays, hyperkinesis, ADHD, feeding problems, sleep problems, and wide spaced teeth. The deletion was inherited from a father with ADHD and bipolar disorder. Follow up ophthalmological exam was normal and the father has normal vision. This history supports the putative PAX6 downstream regulatory region proposed by Balay et al, 2015 (PMID:26419218), which is not included in this patient's deletion region. It is not clear whether this deletion is related to the patient neurodevelopmental history. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677914 | SCV000804069 | uncertain significance | not provided | 2018-04-03 | criteria provided, single submitter | provider interpretation | This deletion was identified in a 20 year old male with autism spectrum disorder, sleep disturbance, mood disorder, anxiety, macrocephaly, a vocal tic, and obesity. He has astigmatism, eczema, and a history of frequent epistaxis. There is no paternal history of neurodevelopmental disorders. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677915 | SCV000804070 | likely benign | not provided | 2018-04-05 | criteria provided, single submitter | provider interpretation | This deletion was identified in a 7 year old male with a history of global developmental delay (intellectual ability are uncertain) and superimposed expressive language delay. He has echolalia and will point in a protoimperative and protodeclarative manner. He is making progress with expressing emotions and will follow a familiar two-step command. He was found to have a pathogenic 8.2 Mb duplication of 18p11.32p11.22 by microarray. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677916 | SCV000804071 | pathogenic | not provided | 2018-04-05 | criteria provided, single submitter | provider interpretation | This duplication was identified in a 7 year old male with a history of global developmental delay (intellectual ability are uncertain) and superimposed expressive language delay. He has echolalia and will point in a protoimperative and protodeclarative manner. He is making progress with expressing emotions and will follow a familiar two-step command. The duplication was also found in the patient's mother, who has a history of ADHD and learning disability. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677917 | SCV000804072 | uncertain significance | not provided | 2018-04-05 | criteria provided, single submitter | provider interpretation | This duplication was identified in a 9 year old male with mild intellectual disability, expressive language delay, inattentiveness, and hyperkinesis. The duplication was inherited from a mother with no significant neurodevelopmental problems. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677918 | SCV000804073 | pathogenic | not provided | 2018-04-05 | criteria provided, single submitter | provider interpretation | This deletion was identified in a 5 year old male with global developmental delays, mild neuromotor abnormalities, stereotypy, macrocephaly, and large stature. He is monitored for seizures due to spells. He has had normal cardiac echo and ECG, normal cranial ultrasound, normal renal ultrasound (except for a urachal cyst). The deletion was inherited from a father with a history of speech delay, learning disability, bipolar disorder, depression, anxiety, substance abuse, heart murmur, and congenital pancreatic divisum. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677919 | SCV000804074 | likely benign | not provided | 2018-02-26 | criteria provided, single submitter | provider interpretation | This duplication was identified in a 10 year old male with autism spectrum disorder, large stature, anxiety, compulsive behavior, and uncertain intellectual abilities. The duplication was inherited from the patient's mother, who does not report learning or developmental problems. There is a maternal family history of psychiatric illness. Additionally, a de novo copy number gain at 19p13.2 was identified by CMA, and 2 variants of uncertain significance were identified by exome sequencing. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677920 | SCV000804075 | uncertain significance | not provided | 2018-02-26 | criteria provided, single submitter | provider interpretation | This duplication was identified in a 10 year old male with autism spectrum disorder, large stature, anxiety, compulsive behavior, and uncertain intellectual abilities and was found to be de novo. Additionally, a maternally-inherited copy number gain at 6p22.3 was identified by CMA, and 2 variants of uncertain significance were identified by exome sequencing. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677921 | SCV000804076 | likely pathogenic | not provided | 2018-02-05 | criteria provided, single submitter | provider interpretation | This duplication was identified in a 9 year old male with agenesis of the corpus callosum, macrocephaly secondary to enlarged third ventricle, ADHD, and a family history of psychiatric illness. His biological mother has agenesis of the corpus callosum, Tourette's syndrome, and depression. A maternal uncle has schizophrenia, agenesis of the corpus callosum, seizure disorder, and bipolar disorder. The maternal grandfather had schizophrenia and agenesis of the corpus callosum, and a maternal great uncle also had agenesis of the corpus callosum. Parental or other family member testing was not possible. This duplication includes the SHH gene and additional duplications in the literature suggest it is causative for this patient's clinical features (Heide, 2017; Wong, 2015). |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677922 | SCV000804077 | likely pathogenic | Mental retardation, autosomal dominant 18 | 2018-02-05 | criteria provided, single submitter | provider interpretation | This deletion was identified in a 4 year old female with global developmental delays, macrocephaly, telecanthus, and a wide based gait. It was found to be de novo and likely impacts expression of the GATAD2B gene due to loss of regulatory region. Clinical correlation with previously reported patients with GATAD2B-related disorder was thought to be very good. In addition, this patient has a paternally-inherited, likely benign duplication at 4q22.3. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677923 | SCV000804078 | likely benign | not provided | 2018-02-05 | criteria provided, single submitter | provider interpretation | This duplication was identified in a 4 year old female with global developmental delays, macrocephaly, telecanthus, and a wide based gait. It was inherited from a clinically unaffected father. In addition, this patient carries a de novo, likely pathogenic deletion at 1q21.3. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677924 | SCV000804079 | uncertain significance | not provided | 2018-02-26 | criteria provided, single submitter | provider interpretation | This duplication was identified in a 17 year old male with learning disorder and high functioning autism spectrum disorder. He has a recent diagnosis of sinus tachycardia. This duplication was inherited from the patient's mother, who has a history of anxiety disorder and obsessive-compulsive disorder. Her identical twin sister has a history of depression and severe obsessive-compulsive disorder. This patient's sister, who has mild autism and a phonological disorder, also carries this duplication. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677925 | SCV000804080 | uncertain significance | not provided | 2018-02-05 | criteria provided, single submitter | provider interpretation | This duplication was identified in a 4 year old male with mild global developmental delays, receptive/expressive language disorder, hypotonia, microcephaly, and short stature. Brain MRI revealed pachygyria. Ophthalmology and endocrinology evaluations were normal. This patient's mother, who carries this variant, has learning disability. She has not had subsequent brain imaging. In addition, this patient and his mother were found to carry a novel missense variant in the TUBB2B gene. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677926 | SCV000804081 | pathogenic | not provided | 2018-04-05 | criteria provided, single submitter | provider interpretation | This duplication was identified in a 4 year old female with global developmental delays, hearing impairment, sleep problems, short stature, esotropia, chronic constipation, anemia, and small PFO. Renal ultrasound was normal. Notable facial features include a long, narrow face, upslanting palpebral fissures, infraorbital creases, bulbous nasal tip, anteverted nares, and mild retrognathia. This patient also has a pathogenic 39 Mb terminal deletion of Xp22.3p11.2. These copy number variants are a result of a de novo rearrangement: 46,X,der(X)t(X;15)(p11.4;q11.2). |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677927 | SCV000804082 | pathogenic | not provided | 2018-04-05 | criteria provided, single submitter | provider interpretation | This deletion was identified in a 4 year old female with global developmental delays, hearing impairment, sleep problems, short stature, esotropia, chronic constipation, anemia, and small PFO. Renal ultrasound was normal. Notable facial features include a long, narrow face, upslanting palpebral fissures, infraorbital creases, bulbous nasal tip, anteverted nares, and mild retrognathia. This patient also has a pathogenic 71 Mb terminal duplication of 15q13.2q26.3. These copy number variants are a result of a de novo rearrangement: 46,X,der(X)t(X;15)(p11.4;q11.2). |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677928 | SCV000804083 | likely benign | not provided | 2018-02-26 | criteria provided, single submitter | provider interpretation | This duplication was identified in a 6 year old male with a language disorder, delayed adaptive skills, hypotonia, and short stature. It was inherited from his clinically unaffected mother, who also has no vision abnormalities. Copy number gains of the GUCA1A and GUCA1B genes have been observed in the ExAC database. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677929 | SCV000804084 | uncertain significance | not provided | 2017-06-12 | criteria provided, single submitter | provider interpretation | This duplication was identified in a 3 year old female with develomental delays. She is non-dysmorphic and has a strong maternal family history of psychiatric disorders, seizures, and intellectual disability. Paternal history is unknown. Parental samples were not available for testing. Additionally, a variant of uncertain significance was identified by whole exome sequencing. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677930 | SCV000804085 | uncertain significance | not provided | 2017-08-03 | criteria provided, single submitter | provider interpretation | This deletion was identified in a 3 year old male with global developmental delay, expressive language disorder, mild hypotonia, short stature, dolichocephaly, laterally arched eyebrows, epicanthal folds, bulbous nasal tip, bowed upper lip, small toes, sleep disorder, and a history of prematurity. It was inherited from an unaffected mother. It is also a fairly gene-poor region. Additionally, whole exome sequencing identified a de novo, likely pathogenic sequence variant which most likely explains this patient's clinical history. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677931 | SCV000804086 | pathogenic | Becker muscular dystrophy | 2017-05-16 | criteria provided, single submitter | provider interpretation | This deletion was identified in a 10 year old male with mild intellectual disability, ADHD, oppositional-defiant disorder, and a history of gastroschisis. Muscle tone and strength appeared normal on exam and there were no gait abnormalities. CK levels, taken after identification of DMD deletion, were significantly elevated (2287). |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677932 | SCV000804087 | pathogenic | not provided | 2017-10-31 | criteria provided, single submitter | provider interpretation | This deletion was identified in a 4 year old female with autism spectrum disorder, global developmental delay, and mild hypotonia. She walked at age 2 but currently there are no motor concerns. She has significant language delay with no spoken words, does not point to request, and appears to understand only a few words (receptive age equivalent 10 months). She is slightly short (5th percentile). She has a long philtrum but is otherwise non-dysmorphic. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677933 | SCV000804088 | uncertain significance | not provided | 2018-03-29 | criteria provided, single submitter | provider interpretation | This deletion was identified in a 6 year old male with autism spectrum disorder, disruptive behavior, hyperactivity, persistent insomnia, coordination disorder, and cyclic vomiting syndrome. Only a maternal sample was available for testing, and the patient's mother does not carry the deletion. Of note, this patient also carries a variant of uncertain significance in the ADCY5 gene. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677934 | SCV000804089 | pathogenic | Schizophrenia 17 | 2017-07-29 | criteria provided, single submitter | provider interpretation | This deletion was identified in a 5 year old male with mild intellectual disability, ADHD, mild phonological disorder, and disruptive behavior disorder. Parental testing was not completed. There is an extensive family history of substance abuse, psychiatric diagnoses, and learning disabilities. Two additional copy number variants were also identified in this patient, one likely pathogenic and one of uncertain significance. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677935 | SCV000804090 | likely pathogenic | Spinocerebellar ataxia 27 | 2017-07-29 | criteria provided, single submitter | provider interpretation | This deletion was identified in a 5 year old male with mild intellectual disability, ADHD, mild phonological disorder, and disruptive behavior disorder. Parental testing was not completed. There is no family history of movement disorders. The patient does not currently show any signs of tremor, dyskinesia, or ataxia. He is described by his family as more uncoordinated than his peers. There are reports of individuals with FGF14-related cerebellar ataxia not presenting with motor abnormalities until later in childhood, so the patient will continue to be monitored. Two additional copy number variants were also identified in this patient, one that is pathogenic and one of uncertain significance. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677936 | SCV000804091 | uncertain significance | not provided | 2017-07-29 | criteria provided, single submitter | provider interpretation | This duplication was identified in a 5 year old male with mild intellectual disability, ADHD, mild phonological disorder, and disruptive behavior disorder. Parental testing was not completed. The region is not known to vary in copy number in the normal population, but none of the genes in the region are currently associated with known clinical disorders. Two additional copy number variants were also identified in this patient, one that is pathogenic and one that is likely pathogenic. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677937 | SCV000804092 | uncertain significance | not provided | 2014-11-12 | criteria provided, single submitter | provider interpretation | This deletion was identified in a 7 year old male with global developmental delays, phonological disorder, ADHD, and disruptive behavior. The deletion was inherited from his mother, who has a history of learning disabilities and ADHD. The deletion is also present in the patient's brother, who has a history of abnormal number of umbilical cord vessel, cardiac defect, and bilateral clubfoot deformity. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677938 | SCV000804093 | pathogenic | Deafness, autosomal recessive 16 | 2018-03-29 | criteria provided, single submitter | provider interpretation | This deletion was identified in a 3 year old female with bilateral sensorineural hearing loss, mixed receptive-expressive language disorder, mild visual-motor delay, mild hypotonia, and gross motor delay. While parental studies have not been done, both of the patient's sisters are homozygous for the same 15q15.3 deletion and both have hearing impairments, suggesting that the parents are each a carrier of the deletion. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677939 | SCV000804094 | pathogenic | Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B | 2017-02-06 | criteria provided, single submitter | provider interpretation | This deletion was identified in an 8 year old female with autism spectrum disorder and intellectual disability. The deletion was maternally inherited, and the mother has a history of language delays in childhood, learning impairment, depression, anxiety, and bipolar disorder. She reported a family history of Duchenne muscular dystrophy. One of the patient's maternal uncles died at age 21, and another maternal uncle died at age 12 following anesthesia complications during surgery; they were both reported to have DMD. Neither the patient nor her mother have been evaluated by cardiology to assess for cardiomyopathy. Additionally, neither the patient nor her mother have a history of muscle weakness or gait abnormalities. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677940 | SCV000804095 | likely pathogenic | Nemaline myopathy 6 | 2018-04-12 | criteria provided, single submitter | provider interpretation | This deletion was identified in a 12 year old male with autism spectrum disorder, history of right talipes equinovarus, and leg length discrepancy. Parental studies (targeted microarray and FISH analysis) revealed that this deletion arose de novo. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677942 | SCV000804097 | pathogenic | not provided | 2018-04-15 | criteria provided, single submitter | provider interpretation | This duplication was identified in a 5 year old female with global developmental delays, short stature, basiocciput hyperplasia and associated basilar invagination, and an arachnoid cyst. Parental studies were performed, and the duplication was found to be de novo. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677943 | SCV000804098 | pathogenic | Axenfeld-Rieger syndrome type 3 | 2018-04-16 | criteria provided, single submitter | provider interpretation | This deletion was identified in a 9 year old female with intellectual disability, microcephaly, craniosynostosis, left hemifacial microsomia, feeding disorder, congenital heart defects, congenital hypothyroidism, renal hypodysplasia/stage 3 chronic kidney disease, ptosis, alternating esotropia, recurrent otitis media, small teeth, and history of prematurity (born at 34 weeks). The deletion was inherited from the patient's father who carries a balanced chromosome translocation (46,XX,der(21),t(6;21)(p21.3q22.3)pat). Because of the patient's intolerance to opthalmological exams, it is not known whether or not she shows signs of glaucoma. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677944 | SCV000804099 | pathogenic | not provided | 2018-04-16 | criteria provided, single submitter | provider interpretation | This duplication was identified in a 9 year old female with intellectual disability, microcephaly, craniosynostosis, left hemifacial microsomia, feeding disorder, congenital heart defects, congenital hypothyroidism, renal hypodysplasia/stage 3 chronic kidney disease, ptosis, alternating esotropia, recurrent otitis media, small teeth, and history of prematurity (born at 34 weeks). The duplication was inherited from the patient's father who carries a balanced chromosome translocation (46,XX,der(21),t(6;21)(p21.3q22.3)pat). |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677945 | SCV000804100 | uncertain significance | not provided | 2017-10-09 | criteria provided, single submitter | provider interpretation | This duplication was identified in a 4 year old male with global developmental delays. The duplication was paternally inherited, and the patient's father has a history of learning disabilities and bipolar disorder. The region is not known to vary in copy number in the normal population. The two genes in this region that are associated with human disease (SUMF1, ITPR1) are not known to cause disease when duplicated. Of note, this patient also carries the recurrent 22q11.2 duplication. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677946 | SCV000804101 | uncertain significance | not provided | 2018-04-15 | criteria provided, single submitter | provider interpretation | This duplication was identified in an 18 year old male with mild intellectual disability, ADHD, disruptive behavior, and microcephaly (5th percentile). The patient's mother does not carry the duplication, and a paternal sample is unavailable. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677947 | SCV000804102 | uncertain significance | not provided | 2017-01-10 | criteria provided, single submitter | provider interpretation | This deletion was identified in a 6 year old male with intellectual disability and motor stereotypies. The deletion was found to be maternailly-inherited; the patient's mother is unaffected. The deletion encompasses the non-coding exon 1 of RBFOX1. Haploinsuffiency of RBFOX1 has been implicated in several neurodevelopmental phenotypes, and some deletions have been inherited from a phenotypically normal parent. Of note, this patient also carries a paternally-inherited VUS in the SHANK2 gene. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677948 | SCV000804103 | uncertain significance | Dilated cardiomyopathy 1W; Familial hypertrophic cardiomyopathy 15 | 2015-10-30 | criteria provided, single submitter | provider interpretation | This duplication was identified in a 4 year old female with autism spectrum disorder, global developmental delays, and a feeding disorder. Parental testing has not been performed. Family history is significant for a cerebrovascular accident in the patient's mother at age 36, but there is no known history of cardiomyopathy. Of note, this patient's whole exome sequencing has thus far been negative. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677949 | SCV000804104 | uncertain significance | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | 2017-03-23 | criteria provided, single submitter | provider interpretation | This duplication was identified in a 7 year old male with autism spectrum disorder. The duplication was maternally inherited, and his mother does not have a history of hearing impairment or learning disabilities. She does have a history of kidney stones; loss of function variants in AMMECR1, which is within this duplicated region, are associated with nephrocalcinosis. The patient does not have a history of any kidney concerns. Of note, the patient's whole exome sequencing has thus far been normal. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677950 | SCV000804105 | uncertain significance | not provided | 2017-06-13 | criteria provided, single submitter | provider interpretation | This duplication was identified in a 4 year old male with autism spectrum disorder and global developmental delays. The duplication was maternally inherited, and this individual's mother does not have a history of neurodevelopmental disorders. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677951 | SCV000804106 | uncertain significance | Mental retardation, autosomal dominant 26 | 2017-03-30 | criteria provided, single submitter | provider interpretation | This duplication was identified in a 4 year old male with autism spectrum disorder, global developmental delays, and agenesis of the corpus callosum. The duplication was maternally-inherited, and the patient's mother has a history of depression and anxiety. The patient also carries a maternally inherited duplication of uncertain significance at 18q21.2. Of note, this patient's whole exome sequencing has thus far been normal. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677952 | SCV000804107 | uncertain significance | Mirror movements 1 | 2017-03-30 | criteria provided, single submitter | provider interpretation | This duplication was identified in a 4 year old male with autism spectrum disorder, global developmental delays, and agenesis of the corpus callosum. The duplcation was inherited from his mother, who has a history of anxiety and depression. The patient also carries a duplication of uncertain significance at 7q11.22. Of note, his whole exome sequencing has thus far been negative. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677953 | SCV000804108 | uncertain significance | not provided | 2017-03-26 | criteria provided, single submitter | provider interpretation | This duplication was identified in a 7 year old male with autism spectrum disorder, history of developmental delays with uncertain intellectual abilities, and self-injurious behaviors. The duplication is maternally-inherited; the patient's mother has a history of anxiety and depression. Of note, the patient was found to carry a variant of uncertain significance in KIF4A through whole exome sequencing. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677954 | SCV000804109 | uncertain significance | not provided | 2014-01-24 | criteria provided, single submitter | provider interpretation | This deletion was identified in a 15 year old male with autism spectrum disorder, intellecutal disability, disruptive behavior, sleep disturbances, and staring episodes. The deletion was found to be maternally inherited; his mother has a history of depression and phenomic disorder. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677955 | SCV000804110 | uncertain significance | not provided | 2017-05-01 | criteria provided, single submitter | provider interpretation | This duplication was identified in a 16 year old female with autism spectrum disorder and intellectual disbaility. Parental studies were never performed, so inheritance is unknown. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677956 | SCV000804111 | uncertain significance | not provided | 2016-12-08 | criteria provided, single submitter | provider interpretation | This duplication was identified in a 3 year old male with autism spectrum disorder and global developmental delays. The duplication was paternally inherited, and the patient's father has a history of learning disabilities, childhood speech delay, childhood seizures, and anxiety. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677957 | SCV000804112 | uncertain significance | not provided | 2017-06-08 | criteria provided, single submitter | provider interpretation | This deletion was identified in a 16 year old male with intellectual disability and growth failure. Of note, this patient also carries a de novo likely pathogenic variant in the ZNF711 gene, which is felt to explain his intellectual disability. The patient's mother is unaffected. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677958 | SCV000804113 | pathogenic | Hyperparathyroidism 1; Parathyroid carcinoma; Hyperparathyroidism 2 | 2017-04-25 | criteria provided, single submitter | provider interpretation | This deletion was identified in a 13 year old female with borderline intellectual disability, motor coordination disorder, ADHD, skull anomalies, history of neonatal seizure, and amblyopia. The patient's biological parents are unavailable for parental studies. There is no known family history of parathyroid cancer or thyroid disease. Of note, the patient also carries a pathogenic deletion at 16p11.2. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677959 | SCV000804114 | uncertain significance | not provided | 2017-05-01 | criteria provided, single submitter | provider interpretation | This duplication was identified in a 3 year old female with autism spectrum disorder and global developmental delays. The duplication is maternally-inherited, and the mother has no history of neurodevelopmental disorders. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677960 | SCV000804115 | uncertain significance | not provided | 2017-05-17 | criteria provided, single submitter | provider interpretation | This duplication was identified in a 4 year old female with global developmental delays and autism spectrum disorder. The duplication was found to be paternally inherited. The patient's father required learning supports in school. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677961 | SCV000804116 | uncertain significance | not provided | 2017-05-19 | criteria provided, single submitter | provider interpretation | This deletion was identified in an 11 year old male with left hemiplegia, mild intellectual disability, seizure disorder, and hypothyroidism. Parental samples are unavailable, so inheritance is unknown. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677962 | SCV000804117 | uncertain significance | Kallmann syndrome 1 | 2017-08-10 | criteria provided, single submitter | provider interpretation | This duplication was identified in a 4 year old female with global developmental delays. Parental samples are unavailable, so inheritance is unknown. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677963 | SCV000804118 | uncertain significance | not provided | 2018-01-31 | criteria provided, single submitter | provider interpretation | This duplication was identified in a 4 year old male with autism spectrum disorder and speech delay. The duplication was found to be maternally inherited, and the patient's mother received learning supports in school. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677964 | SCV000804119 | pathogenic | Exudative vitreoretinopathy 1 | 2017-10-18 | criteria provided, single submitter | provider interpretation | This deletion was identified in an 11 year old male with autism spectrum disorder and intellectual disability. The patient does not tolerate thorough opthalmological evaluations, but he is not reported to show any signs of retinopathy at his current age. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677965 | SCV000804120 | uncertain significance | Plasminogen activator inhibitor type 1 deficiency | 2017-10-18 | criteria provided, single submitter | provider interpretation | This duplication was identified in an 11 year old male with autism spectrum disorder and intellectual disability. The duplication was maternally-inherited, and neither the patient nor his mother are reported to have abnormal bleeding after trauma or surgery. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677966 | SCV000804121 | uncertain significance | not provided | 2018-04-11 | criteria provided, single submitter | provider interpretation | This duplication was identified in a 12 year old male with autism spectrum disorder, ADHD, history of global developmental delay (resolved, IQ currently in average range), and history of bilateral clubfoot deformity. The duplication was paternally inherited, and the patient's father has learning difficulties and a history of anxiety and depression. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677967 | SCV000804122 | uncertain significance | not provided | 2018-04-13 | criteria provided, single submitter | provider interpretation | This duplication was identified in a 6 year old male with autism spectrum disorder, global developmental delay, hypotonia, a heart murmur, feeding problems, GERD, and a history of a unilaterial inguinal hernia, and was found to be maternally inherited. The patient's mother does not have a history of any neurodevelopmental disorders. Notably, neither this patient nor his mother have any hand, foot, or bone defects. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677968 | SCV000804123 | uncertain significance | not provided | 2018-04-13 | criteria provided, single submitter | provider interpretation | This duplication was identified in a 6 year old male with autism spectrum disorder, global developmental delay, hypotonia, a heart murmur, feeding problems, GERD, and a history of a unilaterial inguinal hernia. The duplication was found to be maternally inherited. The patient's mother does not have a history of any neurodevelopmental disorders. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677969 | SCV000804124 | uncertain significance | Macrocephaly, macrosomia, facial dysmorphism syndrome | 2018-02-23 | criteria provided, single submitter | provider interpretation | This duplication was identified in a 4 year old male with autism spectrum disorder, global developmental delay, and history of prematurity (born at 28 weeks). The duplication was maternally inherited, and the mother has a history of learning disability and depression. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677970 | SCV000804125 | uncertain significance | not provided | 2017-08-21 | criteria provided, single submitter | provider interpretation | This 924 kilobase duplication includes portions of the NKAIN2 and TRDN genes. TRDN is associated with autosomal recessive catecholaminergic polymorphic ventricular tachycardia-5 with or without muscle weakness. NKAIN2 is not currently associated with any known disorders. Disruption of NKAIN2 due to de novo rearrangements have been reported in two patients previously (Yue et al. 2006; Bocciardi et al. 2005). One individual with disruption at exon 4 had a clinical history of a congenital heart defect, macrocephaly, undescended testes, recurrent infections, and developmental delays (Yue et al. 2006). The second individual's translocation disrupted the gene in intron 4 had a history of neurologic abnormalities including including epileptic encephalopathy with spastic tetraparesis and severe psychomotor retardation associated with cerebral atrophy with involvement of the periventricular white matter (Bocciardi et al. 2005). Similar, overlapping duplications have been reported in several individuals in DECIPHER including in an individual with cognitive impairment (Case: 300577) and an individual with short stature (Case:331671). Overlapping variants have also been submitted to dbVar/ClinVar previously (nssv582678; nsv2777188; nsv534388) and reported in developmental delay cohorts as well as in controls (nsv1022195; nsv1018599). A similar duplication has been reported in the literature in an individual with facial dysmorphism, severe developmental delay, complex neurological impairment and spasticity (Sheth et al. 2015). Both unaffected, consanguinous parents carried that duplication, however. Given that similar duplications have been reported in individuals with neurodevelopmental concerns as well as in control populations and unaffected parents, the clinical significance of this variant is unclear. This patient also had a maternally inherited, pathogenic 1q21.1q21.2 duplication identified on chromosomal microarray that provides an explanation for his autism spectrum disoder, speech delay, and other phenotypic features. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677971 | SCV000804126 | uncertain significance | not provided | 2017-10-31 | criteria provided, single submitter | provider interpretation | This 259 kilobase duplication includes a portion of the PARK2 gene. The PARK2 gene is associated with autosomal recessive juvenile parkison disease type 2. Copy number variants (deletions and duplications) including PARK2 have been reported at a higher prevalence in individuals with ADHD compared to controls, suggesting deletions and duplications of PARK2 may be associated with increased susceptibility of ADHD (Jarick et al. 2014). Deletions and duplications including PARK2 have been suggested as a possible genetic suscpetibility of autism spectrum disorder (Glessner et al. 2009; Yin et al. 2016). A duplication also has been identified in an individual with cognitive impairments who is underweight and has short stature (Scheuerle & Wilson 2011). PARK2 partial gene duplications have been reported in DECIPHER in individuals with intellectual disability and behavioral abnormalities (279450; 279451). The copy number variants reported previously contain multiple exons, whereas, this patient's duplication only includes exon 2 of the gene. PARK2 copy number variants have also been identified in control populations (nsv605163; nsv605167; nsv1034495; nsv1021711; nsv1019976). Follow-up quantitative PCR confirmed overexpression of PARK2 in both the patient and his father suggesting this duplication was paternally inherited. The patient's father has a reported history of dyslexia and learning disability in early schooling. Based on the relatively low number of patients reported in the literature and the presence of duplications and deletions in healthy controls/unaffected parents, further evidence is needed to definitively classify this variant. Whole exome sequencing was also completed for this patient and a paternally inherited variant of uncertain significance was identified. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677972 | SCV000804127 | uncertain significance | not provided | 2017-10-07 | criteria provided, single submitter | provider interpretation | This 758 kilobase deletion includes four genes - BEND3, PDSS2, SOBP, and SCML4. PDSS2 is associated with primary coenzyme Q10 deficiency -3 (OMIM 614652) and SOBP is associated with intellectual disability, anterior maxillary protrusion and strabismus (OMIM 613671). Smaller overlapping deletions have been reported in DECIPHER, including in an individual with global developmental delay, macrocephaly, and abnormality of the philtrum who was large for gestational age (Case 262370) and an individual with a de novo deletion with a history of autism spectrum disorder, delayed speech and language, intellectual disability, microcephaly, and ventricular septal defect (Case 254740). The deletion in our patient was found to be maternally inherited. The patient's mother reportedly had difficulty in reading and math but did not require additional learning supports. The patient also underwent clinical whole exome sequencing that was negative. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677973 | SCV000804128 | uncertain significance | not provided | 2017-10-30 | criteria provided, single submitter | provider interpretation | The 211 kilobase duplication on chromosome 22 contains 4 genes (TXN2, FOXRED2, EIF3D, and a portion of CACNG2), none of which are known to be associated with a clinical disorder when duplicated. The TXN2 gene is associated with autosomal recessive oxidative phosphylation deficiency- 29 and CACNG2 has been reported to cause autosomal dominant intellectual disability due to loss of function variants. A smaller overlapping duplication was identified in a developmental delay cohort (nsv1064827). An overlapping duplication has also been reported in a control (nsv1060004). Parental testing for our patient showed that this variant was paternally inherited. The patient's father does not have a history of autism spectrum disorders or developmental differences making this variant less likely to be anexplanation for the patient's neurodevelopmental history. The patient also underwent whole exome sequencing that identified a de novo variant in a gene of uncertain significance. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677974 | SCV000804129 | uncertain significance | not provided | 2018-02-02 | criteria provided, single submitter | provider interpretation | This 507 kilobase duplication was detected in an individual with developmental delay, autism spectrum disorder, dermititis, and sleep difficulties. This duplication includes a portion of the TWIST2 and HDAC4 genes. TWIST2 is associated with the autosomal recessive disorder focal facial dermal dysplasis 3, Setleis type. Haploinsufficiency of HDAC4 is associated with brachydactyly-mental retardation syndrome. Duplications of these genes have not been associated with any particular conditions, however. The genetic testing laboratory indicated that they have seen duplications in the area, and several other duplications have been reported in DECIPHER, including a smaller overlapping variant in an individual with an abnormal face shape and intellectual disability (Case: 282651). This area is not known to vary in the general population. Parental testing has not been completed to date to determine if this variant is de novo or inherited. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677975 | SCV000804130 | likely pathogenic | not provided | 2017-11-16 | criteria provided, single submitter | provider interpretation | This approximately 9.1 Mb deletion was detected in a 10 year old male with a history of expressive language disorder, autism spectrum disorder, sleep difficulties, and ADHD. This deletion includes 25 genes, 4 of which have been associated with clinical disorders. Two genes, NEK1 and MSMO1, are associated with autosomal recessive conditions indicating the patient is a carrier for these conditions. Heterozygous missense variants in the TLL1 gene have been associated with atrial septal defects (Stanczak et al. 2009). A single missense variant in PALLD has been reported to increase susceptibility to pancreatic cancer. PALLD has conflicting literature regarding its link to pancreatic cancer risk, however. Some publications indicate a risk while other literature refutes this. Functionally, this variant has been shown to result in overexpression of the gene, and overexpression of the gene is not expected with a gene deletion (Pogue-Geile et al. 2006). Overlapping deletions have been reported in the literature in an individual with Robin sequence, mild developmental delays and ulnar anomalies and another individual with congenital heart defect, growth delay, and minor skeletal anomalies (Keeling et al. 2001; Xu et al. 2012). Overlapping deletions have been identified in several individuals in DECIPHER including an individual with a broad forehead, downslanted palpebral fissures, high anterior hairline, and intellectual disability (Case 257358). An overlapping variant was also submitted to ClinVar/dbVar in an individual with abnormal facial shape and learning disability (nsv532029). A follow-up echocardiogram for the patient was normal. Parental follow-up testing identified that this deletion is secondary to a maternal balanced rearrangement. Maternal family history includes a relative with multiple miscarriages, a pregnancy with congenital anomaly of the brain/skull, and a child with a congenital heart defect suggesting others in the family may also carry the balanced rearrangement. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677976 | SCV000804131 | uncertain significance | not provided | 2018-03-16 | criteria provided, single submitter | provider interpretation | This 305 kilobase duplication was identified in an individual with autism spectrum disorder, delayed milestones, hyperopia, and asthma. This duplication includes portions of the SHOX and PPP2R3B genes. Nonsense variants and deletions of SHOX have been reported in individuals with idiopathic short stature and Leri-Weill dyschondrosteosis (Huber et al. 2001; Niesler et al. 2002; Rappold et al. 2002). Partial or complete duplications of SHOX and/or its enhancer regions have also been reported in patients with these conditions (Thomas et al. 2009; Benito-Sanz et al. 2011). Duplications of SHOX have also been reported in individuals with tall stature. Tropeano et al. 2016 identified an enrichment of SHOX microduplications in individuals with neurodevelopmental disorders including autism sprectrum disorders compared to controls. The patient's father also was found to carry this duplication although testing could not determine if the variant is on his father's X or Y chromosome since its location on the Y chromosome in the patient could be the result of recombination between the X and Y chromosomes in his father. The patient's father is also of typical height but does have a reported history of speech delay and learning disability. The patient was found to also carry a maternally inherited, distal 16p11.2 deletion. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677977 | SCV000804132 | uncertain significance | not provided | 2018-03-19 | criteria provided, single submitter | provider interpretation | This 393 kilobase duplication was identified in an individual with autism spectrum disorder, intellectual disability, ADHD, constipation, hypotonia, and expressive language disorder. This duplication is within cytogenetic band 16p13.3. The duplication includes 15 entire genes and the portion of two additional genes. Four genes are associated with clinical conditions - TSC2, PKD1, ABCA3, and TBC1D24. A portion of TSC2 is included in this duplication. Heterozygous loss of function variants in TSC2 are associated with tuberous sclerosis-2 and heterozygous loss of function variants in PKD1 are associated with adult type 1 polycystic kidney disease. ABCA3 is associated with autsomal recessive pulmonary surfactant metabolism dysfunction, and TBC1D24 is associated with several autosomal recessive conditions including early infantile epileptic encephalopathy, familial infantile myoclonic epilepsy, autosomal recessive deaness, and DOOR syndrome. Slightly larger duplications have been reported in DECIPHER in an individual with a kidney abnormality and mild intellectual disability (Case 263885) and in the general population in a single individual (chr16:2124547-2679656). No smaller overlapping duplications have been reported. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677978 | SCV000804133 | pathogenic | not provided | 2018-03-19 | criteria provided, single submitter | provider interpretation | This 13.9 Mb duplication from cytogenetic band 20p12.2 to 20q11.21 was determined to be present in the form of a supernumerary marker chromosome in an 8 year old male with a history of syndactyly of the toes, speech delay, developmental delay, nystagmus, and spontaneous pneumothorax. In particular, this result likely is indicative of a ring chromosome. This supernumerary chromosome was identifid in 88% of cells. Ring chromosomes of a similar size have been reported in databases in and in the literature (http://ssmc-tl.com/sSMC.html; Daber et al. 2012; Kitsiou-Tzeli et al. 2009; Guediche et al. 2010). Reported phenotypes of individuals with supernumerary marker chromosome are highly variable with unaffected individuals, growth retardation, atrial septal defect, facial dysmorphism, and developmental delay (Daber et al. 2012; Guediche et al. 2010; Kitsiou-Tzeli et al. 2009). |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677979 | SCV000804134 | uncertain significance | not provided | 2018-03-19 | criteria provided, single submitter | provider interpretation | This 82 kilobase duplication was identified in a patient with a history of autism spectrum disorder and global developmental delay. The duplication includes only the NDP gene. Loss of function of the NDP is associated with Norrie disease and exudative vitreoretinopathy, features of which include blindness in infancy, progressive hearing loss, developmental delays, intellectual disability, and psychosis. Females may rarely have some clinical manifestations. The impact of duplications of the NDP gene are unclear. This region is not known to vary in the general population. The patient's mother was found to carry this same duplication. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677980 | SCV000804135 | uncertain significance | not provided | 2018-03-27 | criteria provided, single submitter | provider interpretation | This 960 kilobase duplication was identified in a patient with a history of macrocephaly, dysmorphic features, atrial septal defect, agenesis of the corpus callosum, seizures, feeding disorder and global developmental delays. Parental testing confirmed this duplication was maternally inherited. This patient's mother has a reported history of anxiety, depression, and a mild learning disability. The duplication includes a portion of the CTNND2 gene, a gene that has been suggested to play a role in severity of intellectual disability in cri-du-chat syndrome. The impact of a partial duplication of this gene is unclear. Partial duplications have been reported in association with schizophrenia and in an individual with cerebral palsy (Vrijenhock et al. 2008; McMichael et al. 2014). |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677981 | SCV000804136 | uncertain significance | not provided | 2018-03-22 | criteria provided, single submitter | provider interpretation | This 1.1 Mb duplication within Xq12 was identified in a patient with a history of autism spectrum disorder and expressive speech delay. The duplication includes the EDA2R and AR genes. Smaller duplications within this region have been identified in individuals with intellectual disability (Madrigal et al. 2007; DECIPHER Case 249562). This duplication was identified in this patient's mother who has a reported history of a learning disability. A 15q11.2 deletion was also identified in this patient and his mother. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677982 | SCV000804137 | uncertain significance | not provided | 2018-03-22 | criteria provided, single submitter | provider interpretation | This 431 kilobase duplication was identified in a female patient with a history of developmental delay, eczema, and a receptive-expressive language disorder. This duplication was inherited from the patient's mother who reportedly has a history of learning difficulties and anxiety. This duplication includes 13 genes. Of those genes, only STK13 has been associated with a clinical condition. Specifically, STK13 is associated with autosomal recessive spermatogenic failure in males. The relevance of a duplication of this, or any of the other included genes, is unknown. Smaller, overlapping duplications in this region have been reported in DECHIPER in an individual with macrocephaly, hydrocephalus, and intellectual disability (Case 288189), an individual with inappropriate behavior and intellectual disability (Case 288524), and an individual with intellectual disability and psychosis (Case 290429). Smaller, overlapping duplications have also been reported in controls (Cooper et al. 2011). |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677983 | SCV000804138 | uncertain significance | not provided | 2018-03-22 | criteria provided, single submitter | provider interpretation | This 804 kilobase deletion was identified in a patient with speech delay , hypotonia, disruptive behaviors, learning disorder and dysmorphic features. The deletion includes seven genes, none of which have been associated with clinical disorders. The deletion was not identified in the patient's mother. His father has not undergone testing to date. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677984 | SCV000804139 | uncertain significance | not provided | 2018-03-22 | criteria provided, single submitter | provider interpretation | This 184 kilobase duplication was identified in a male with global developmental delay, microcephaly, autism spectrum disorder, hearing impairment, idiopathic toe walking, and dysmorphic features. The duplication includes 6 genes, only one of which, NSDHL, has been associated with a clinical condition. The effect of a duplication of this gene, or the others included, is unclear. The patient's mother was found to also carry this duplication. His mother does not have a reported history of neurodevelopmental concerns. The patient also underwent whole exome sequencing and was found to carry two variants of uncertain significance. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677985 | SCV000804140 | likely pathogenic | Dilated cardiomyopathy 1G | 2017-12-04 | criteria provided, single submitter | provider interpretation | This deletion was identified in a patient with a history of intellectual disability, autism spectrum disorder, and insomnia. A mitochondrial disorder has previously been suspected. The deletion includes a portion of the TTN and PLEKHA3 genes. PLEKHA3 has not been associated with a known condition at this time. TTN, however, is expressed in the skeletal and cardiac muscles and has been associated with several conditions including isolated cardiomyopathies, limb-girdle muscular dystrophy, proximal myopathy with early respiratory involvement, Salih myopathy, and Tibial muscular dystrophy. The deletion includes exons 229-313 of the TTN gene. This deletion includes the A and M bands of the protein and this particular deletion has not been reported previously. Deletions and loss of function variants in TTN that impact the A and M bands, such as the deletion found in this patient, are associated with isolated cardiomyopathies. 18-25% of dilated cardiomyopathies have been associated with such TTN variants. Deletions such as this have also been detected in healthy individuals (Herman et al. 2012). This could be due to reduced penetrance, however. The variant was also detected in the patient's mother who does not have a reported history of cardiomyopathy. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677986 | SCV000804141 | likely pathogenic | not provided | 2017-07-28 | criteria provided, single submitter | provider interpretation | This 0.4 kilobase deletion was identified in a patient with autism spectrum disorder. The deletion includes exon 4 of the NRXN1 gene. Variants in the NRXN1 gene, including intragenic copy number variants, have been associated with variable neurodevelopmental diagnoses including autism spectrum disorders, intellectual disability, epilepsy, and schizophrenia. The features are variable from individual to individual. 2p16.3 deletions and variants in the NRXN1 gene have also been reported in healthy controls and unaffected parents of individuals with neuropsychiatric disorders indicating reduced penetrance or variable expressivity (Schaaf et al. 2012; Bena et al. 2013). |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677987 | SCV000804142 | uncertain significance | not provided | 2018-02-01 | criteria provided, single submitter | provider interpretation | This 468 kilobase deletion was identified in a male with a history of mild intellectual disability and autism spectrum disorder. The deletion includes four genes, two of which (FANF and ANO5) are associated with a clinical disorder via autosomal recessive or dominant negative mechanisms. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677988 | SCV000804143 | uncertain significance | not provided | 2018-03-22 | criteria provided, single submitter | provider interpretation | This deletion was identified in a patient with a history of developmental delay, learning disorder, articulation disorder, stereotypic movements, and ADHD. The deletion overlaps with the Williams-Beuren critical region but does not include the ELN gene. The effect of this deletion is unclear. The patient also carries a 22q11.21 duplication and both copy number variants were found to be paternally inherited. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677989 | SCV000804144 | uncertain significance | not provided | 2018-03-22 | criteria provided, single submitter | provider interpretation | This 625 kilobase duplication was identified in an individual with a history autism and global developmental delay/intellectual disability. This duplication includes 15 genes, none of which are known to be triplosensitive at this time. This duplication was also identified in the patient's mother who reportedly has a history of speech and learning delays, asthma, and reflux. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677990 | SCV000804145 | uncertain significance | not provided | 2018-03-22 | criteria provided, single submitter | provider interpretation | This 98 kilobase duplication was identified in a patient with a history of learning disability, large stature, and overgrowth. The duplication includes ANKRD11 and SPG7 genes. These genes are associated with autosomal dominant KBG syndrome and spastic paraplegia type 7, respectively, but the effect of a duplication involving these genes is unclear. Copy number variation in this region has been reported in the general population. The duplication was detected in the patient's mother who does not have a reported history of neurodevelopmental concerns and is of typical stature. Additional genetic testing, including whole exome sequencing, has been performed and has not yieled an explanation for the patient's phenotype. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677991 | SCV000804146 | uncertain significance | not provided | 2018-03-27 | criteria provided, single submitter | provider interpretation | This duplication was identified in a 5 year old female with autism spectrum disorder and speech delay. The duplication was also found to be maternally inherited. Nonsense variants and deletions of SHOX have been reported in individuals with idiopathic short stature and Leri-Weill dyschondrosteosis (Huber et al. 2001; Niesler et al. 2002; Rappold et al. 2002). Partial or complete duplications of SHOX and/or its enhancer regions have also been reported in patients with these conditions (Thomas et al. 2009; Benito-Sanz et al. 2011). Tall stature has also been reported with duplications. This patient and her mother are of typical height. Whole exome sequencing also identified a variant of uncertain significance in this patient. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677992 | SCV000804147 | uncertain significance | not provided | 2018-03-27 | criteria provided, single submitter | provider interpretation | This 421 kilobase duplication was identified in a female with a history of short stature, ADHD, developmental language disorder, and borderline delays in visual-motor/problem-solving adaptive skills. Similar duplications that involve the ARX gene have been reported in males in the literature. Two males had developmental delay and intellectual disability while two others had typical intelligence, causing the authors to postulate that another genetic varaint explained or contributed to the two patients' neurodevelopmental phenotype (Popoviel et al. 2014). A likely pathogenic 22q11.21 atypical deletion was also identified in this patient. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677993 | SCV000804148 | likely pathogenic | not provided | 2018-03-27 | criteria provided, single submitter | provider interpretation | This 412 kilobase deletion was identified in an 11 year old patient with a history of intellectual disability, autism spectrum disorder, amblyopia, and congenital pes planus. Copy number variants of Xq28 have been associated with intellectual disability in males. Females in the literature have been reportedly asymptomatic due to skewed X-inactivation. X-inactivation studies for this patient demonstrated completely skewed X-inactivation (100:0). Similar deletions have been reported in the literature and are thought to be embryonic lethal in males (El-Hattab 2011; El-Hattab 2015). A likely benign 19p13.2 duplication was also identified, and parental testing indicated that the Xq28 deletion was maternally inherited. This patient's mother has a history of 3 miscarriages. Given the skewed X-inactivation in this patient, this deletion does not explain her neurodevelopmental phenotype. The deletion is likely associated with the mother's increased risk for miscarriage. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677994 | SCV000804149 | pathogenic | not provided | 2018-03-27 | criteria provided, single submitter | provider interpretation | This 2.6 Mb deletion was identified in a 10 year old male with a history of autism spectrum disorder, intellectual disability, and ADHD. Overlapping deletions of 15q24.1q24.2 have been identified in individuals with developmental delay, intellectual disability, dysmorphic features, hypotonia, digital anomalies, joint laxity and genital anomalies (Mefford et al. 2012; El-Hattab et al 2009; Van Esch et al. 2009). In the literature, deletions were de novo in each case. Parental follow-up testing has not been completed for this family to date. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677995 | SCV000804150 | uncertain significance | not provided | 2018-03-27 | criteria provided, single submitter | provider interpretation | This 1.6 Mb deletion was identified in a 16 year old male with a history of migraines, autism spectrum disoder, and anxiety. Maternal inheritance has been ruled out, but paternal testing has not been completed to date. A pathogenic 16p11.2 duplication was also identified in this patient. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677996 | SCV000804151 | uncertain significance | not provided | 2018-04-03 | criteria provided, single submitter | provider interpretation | This 41 kilobase deletion was identified in a 15 year old with a history of mild intellectual disability, speech and language disorder, and ADHD. The deletion includes a portion of the TPRX1 gene and the entire CRX gene. Deletions and loss of function variants in CRX have been associated with Leber congenital amaurosis 7, cone-rod dystrophy 2, and late-onset retinitis pigmentosa. Aside from a history of strabismus, the patient does not have a history of vision concerns. This deletion was determined to be maternally inherited. The patient's mother does not have a reported history of vision concerns. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677997 | SCV000804152 | uncertain significance | not provided | 2018-04-03 | criteria provided, single submitter | provider interpretation | This 156 kilobase duplication was identified in a 7 year old with a history of intellectual disability, autism spectrum disorder, pica, hyperkinesis, sleep disturbance, and polyuria. The duplication was found to be maternally inherited. The duplicated region includes a portion of the UPRT and ZDHHC15 genes. A loss of function variant in ZDHHC15 has been reported in an individual with intellectual disability (Manosouri et al. 2015), but the impact of a duplication of this variant is unclear. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677998 | SCV000804153 | pathogenic | not provided | 2018-04-03 | criteria provided, single submitter | provider interpretation | This approximately 2.2 Mb deletion was identified in a 13 year old female with a history of autism spectrum disorder, intellectual disability, and disruptive behavior. The deleted region includes 4 genes, including FOXP2. Loss of function FOXP2 variants are associated with speech and language disorders (Watkins et al 2002; Laffin et al. 2012; Fedorenko et al. 2016). Parental testing has not been completed to date. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000677999 | SCV000804154 | uncertain significance | not provided | 2018-04-03 | criteria provided, single submitter | provider interpretation | This 323 kilobase duplication was identified in a male with a history of obesity, acanthosis nigricans, mixed receptive-expressive language disorder, motor stereotypy. The duplication includes 15 genes, but none are known to be triplosensitive. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000678000 | SCV000804155 | uncertain significance | Mitochondrial complex I deficiency | 2018-03-28 | criteria provided, single submitter | provider interpretation | This deletion was identified in a 6 year old female with microcephaly, history of developmental delays, Duane's syndrome, and alopecia. Parental testing was not completed. This deletion includes 10 genes including, STRN3, CPR33, ARGHAP5, NUBPL, and APA4S1. NUBPL sequencing and del/dup was negative for any additional changes in this gene. Individuals with deletions of NUBPL are typically asymptomatic carriers for complex 1 defiencicy. The clinical significance of this deletion is unknown. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000678001 | SCV000804156 | uncertain significance | not provided | 2018-03-28 | criteria provided, single submitter | provider interpretation | This duplication was identified in a 4 year old female with global developmental delay, mild dysmorphic features, and esotropia. Parental testing was not completed. This deletion included a portion of the gene AUTS2. Additionally, a variant of uncertain significance in the LRRC7 gene was identified through whole exome sequencing. The clinical significance of this duplication remains unclear at this time. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000678002 | SCV000804157 | uncertain significance | not provided | 2018-03-28 | criteria provided, single submitter | provider interpretation | This duplication was identified in a 9 year old male with language disorder, mild intellectual disability, mild hypotonia, disruptive behavior, sleep problems, and a history of global developmental delay. Parental testing was not completed. This duplication includes ten genes, three of which are associated with known clinical disorders; LRRK2, CNTN1, and PRICKLE1. The clinical significance of this duplication remains unclear at this time. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000678003 | SCV000804158 | uncertain significance | not provided | 2018-03-28 | criteria provided, single submitter | provider interpretation | This duplication was identified in a 8 year old male with autism spectrum disorder, ADHD, and unspecified cognitive abilities. Parental testing was not completed. This duplication includes a portion of two genes, FSCN2 and RAAP100. The clinical consequences of a partial duplication of FSCN2 and FAAP100 remain unclear at this time. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000678004 | SCV000804159 | uncertain significance | Autistic disorder of childhood onset | 2018-03-28 | criteria provided, single submitter | provider interpretation | This deletion was identified in a 13 year old male with autism spectrum disorder, intellectual disability, bipolar disorder, conduct disorder, periventricular leukomalacia, and asthma. Parental testing was not completed. This deletion includes a portion of CNTN4. Disruptions of CNTN4 have been reported in individuals with autism spectrum disorders, individuals with 3p- syndrome, and unaffected parents. It is not clear whether this deletion is related to the patient's neurodevelopmental history. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000678005 | SCV000804160 | likely pathogenic | Parkinson disease 2 | 2018-03-01 | criteria provided, single submitter | provider interpretation | This deletion was identified in a 3 year old male with bilateral intra-abdominal testicle, hypertelorism, conductive hearing loss, exotropia, global developmental delay, echogenic kidneys, abnormality of gait, and hyperkinesis. Parental testing was not completed. This deletion includes a portion of PARK2. Individuals with deletions of PARK2 are typically asymptomatic carriers for juvenile onset Parkinson Disease. There is a maternal family history of Parkinson Disease that onset before 30 years of age. This deletion does not explain the findings in this patient. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000678006 | SCV000804161 | uncertain significance | not provided | 2018-03-28 | criteria provided, single submitter | provider interpretation | This deletion was identified in a 18 year old female with autism spectrum disorder, ADHD, and epilepsy. Parental testing was not completed. This deletion includes a portion of TMEM132C and the entirity of TMEM132B, SLC15A4, and GLT1D1, none of which are associated with a known clinical disorder at present. The clinical significance of this deletion remains unclear at this time. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000678007 | SCV000804162 | uncertain significance | Epilepsy, focal, with speech disorder and with or without mental retardation | 2018-03-28 | criteria provided, single submitter | provider interpretation | This duplication was identified in a 4 year old male with macrocephaly, speech delay, autism spectrum disorder, large ears, and developmental delays, and was maternally inherited. Patient's mother has a history of anxiety, with a family history of depression, learning disabilities, and seizures. This duplication includes a portion of GRIN2A, which is associated with focal epilepsy and speech disorder with or without intellectual disability for heterozygous variants. However the clinical signifiance of this duplication is not known at this time. A maternally inherited variant of uncertain significance in the TB1X gene was also identified through whole exome sequencing. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000678009 | SCV000804164 | uncertain significance | not provided | 2018-03-30 | criteria provided, single submitter | provider interpretation | This duplication was identified in a 3 year old male with global developmental delays and a mixed receptive-expressive language disorder, and was found to be paternally inherited. Proband's father is reportedly unaffected, with no history of developmental delays. This duplication includes a portion of CBX7 and RPL3 genes, and the entirety of PDGFB. The clinical significance of a duplication of these genes is not currently known. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000678010 | SCV000804165 | uncertain significance | Autistic disorder of childhood onset | 2018-03-30 | criteria provided, single submitter | provider interpretation | This deletion was identified in a 7 year old male with developmental speech disorder, disruptive behavior disorder, hypermetropia, constipation, ADHD, dysmorphic features, and a history of failure to thrive. Parental testing was not completed. This deletion includes a portion of CNTN4 and is within the larger distal 3p deletion syndrome region. CNTN4 is a candidate gene for autism spectrum disorders. The clinical significance of this deletion remains unclear at this time. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000678011 | SCV000804166 | uncertain significance | Acrodysostosis 2, with or without hormone resistance | 2018-03-30 | criteria provided, single submitter | provider interpretation | This deletion was identified in a 10 year old male with autism spectrum disorder, macrocephaly, some hyperpigmented patches, some joint hypermobility, and anxiety. This deletion was also identified in the proband's twin brother who is similarly affected, but parental testing was not completed. This deletion includes three genes, including PDE4D , and is within the region for the much larger 5q12.1 deletion syndrome. The clinical significance of a deletion of these genes is not currently known. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000678012 | SCV000804167 | likely pathogenic | not provided | 2018-03-30 | criteria provided, single submitter | provider interpretation | This duplication was identified in a 11 year old male with intellectual disability, autism spectrum disorder, ADHD, and a seizure disorder. Parental testing was not completed. This duplication includes 18 OMIM genes and 31 other genes. Identical duplications have not been reported, though overlapping duplications have been noted in DECIPHER in individuals with autism, intellectual disability, seizures, and dysmorphic features. Due to the size of this duplication, it is likely the explanation for this patient's presentation. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000678013 | SCV000804168 | pathogenic | Breast-ovarian cancer, familial 1 | 2018-03-30 | criteria provided, single submitter | provider interpretation | This deletion was identified in a 4 year old male with global developmental delays, macrocephaly, and craniosynostosis. Parental testing was not completed and there was a strong maternal family history of breast and ovarian cancer. This deletion includes BRCA2 and explains this family history, but is likely non-contributory to the proband's medical and developmental history. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000678014 | SCV000804169 | uncertain significance | Leri Weill dyschondrosteosis | 2018-03-30 | criteria provided, single submitter | provider interpretation | This deletion was identified in a 7 year old male with autism spectrum disorder and mild intellectual disability. Parental testing was not completed. This deletion is within the pseudoautosomal region on the short arm terminus of both chromosome X and Y, and involves SHOX enhancers. Of note, this patient is of normal height. Similar deletions have been seen in patients with microcephaly, developmental delays, and/or speech delays. The clinical signifiance of this deletion is currently unclear. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000678015 | SCV000804170 | pathogenic | Mental retardation, autosomal recessive 7 | 2018-03-30 | criteria provided, single submitter | provider interpretation | This homozygous deletion was identified in a 6 year old male with global developmental delays, short stature, chiari malformation type I, exotropia, and microcephaly. Microarray showed 5-6% homozygosity. Analysis of a maternal sample confirmed she is a heterozygous carrier for this deletion. This deletion includes at least exons 2-6 of TUSC3, which is associated with an autosomal recessive form of intellectual disability. This deletion explains the neurodevelopmental phenotype of this patient. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000678016 | SCV000804171 | uncertain significance | Pigmented nodular adrenocortical disease, primary, 2 | 2018-03-30 | criteria provided, single submitter | provider interpretation | This duplication was identified in a 9 year old male with history of global developmental delay, unspecified intellectual disability, ADHD, and esotropia. This patient also has a 15q11.2 deletion that is a known recurrent deletion associated with neurodevelopmental phenotypes and is believed to be the cause of this patient's symptoms. Parental testing was not completed for either variant, though there is a maternal family history for the 15q11.2 deletion. This duplication involves a portion of PDE11A. The clinical significance of the duplication of a portion of this gene is unclear at this time. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000678017 | SCV000804172 | uncertain significance | not provided | 2018-03-30 | criteria provided, single submitter | provider interpretation | This deletion was identified in a 19 year old female with mild intellectual disability, ADHD, anxiety, and hyperphagia, and was found to be de novo. This patient has had normal whole exome sequencing. This deletion includes no genes that are associated with a known clinical phenotype at present. It is unclear at this time if this deletion is related to the patient's neurodevelopmental history. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000678018 | SCV000804173 | uncertain significance | Witteveen-kolk syndrome | 2018-03-30 | criteria provided, single submitter | provider interpretation | This duplication was identified in a 12 year old male with autism spectrum disorder, dysmorphic features, ADHD, a patent foramen ovale, and intellectual disability. Parental testing was not completed. This duplication includes 10 genes, including SIN3A. This duplication is within the 15q24 region, and similar duplications have been reported in patients with a similar phenotype to the recurrent deletion. The clinical significance of this duplication remains unclear. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000678019 | SCV000804174 | uncertain significance | not provided | 2018-03-30 | criteria provided, single submitter | provider interpretation | This deletion was identified in a 8 year old male with autism spectrum disorder, ADHD, and obesity. Parental testing was not completed. This deletion contains the non-coding exon 1 of RBFOX1. Deletions within RBFOX1 have conflicting reports of clinical significance ranging from causing epilepsy and autism spectrum disorders to being normal variation. The clinical significance of the deletion of a portion of this gene is remains unclear. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000678020 | SCV000804175 | uncertain significance | not provided | 2018-04-02 | criteria provided, single submitter | provider interpretation | This deletion was identified in a 18 year old female with autism spectrum disorder, intellectual disability, disruptive behavior disorder, and irritability. Parental testing was not completed. This deletion includes a portion of HIPK2, which is not currently associated with any genetic disorders. This individual also has a maternally inherited 15p11.2 deletion that fits with the recurrent microdeletion syndrome. It is unclear at this time if this 7q34 deletion contributes to this patient's neurodevelopmental history. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000678021 | SCV000804176 | pathogenic | not provided | 2018-04-02 | criteria provided, single submitter | provider interpretation | This deletion was identified in a 16 year old male with intellectual disability, seizure disorder, irritability, submucosal cleft palate, microcephaly, short stature, sleep disturbances, and Emery-Driefuss muscular dystrophy. Parental testing was not completed. This region contains at least 36 genes and was also identified on a karyotype. A 16p13.11 intragenic deletion of ABCC6 was also identified through array and a FHL1 likely pathogenic variant identified through a HCM gene panel. Due to its size, this deletion is believed to explain this patient's neurodevelopmental history in combination with his FHL1 mutation. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000678022 | SCV000804177 | uncertain significance | not provided | 2018-04-12 | criteria provided, single submitter | provider interpretation | This duplication was identified in a 5 year old male with microcephaly, dysmorphic features (large ears, close set eyes, pointed chin), behavioral concerns, pica, myopia, astigmatism, and was found to be maternally inherited. This patient's mother has a history of learning problems and a bicornuate uterus, and a family history of ADHD, special education needs, schizophrenia, depression, deafness, and substance abuse. This duplication includes 18 genes, including MYO9B, CPAMD8, and GTPBP3. The clinical significance of the duplication of these genes remains unclear at this time. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000678023 | SCV000804178 | pathogenic | Pitt-Hopkins-like syndrome 2 | 2018-04-12 | criteria provided, single submitter | provider interpretation | This deletion was identified in a 17 year old male with autism spectrum disorder, intellectual disability, ADHD, aggression, constipation, and weight loss. Parental testing was not completed. This deletion includes a portion of NRXN1, and similar other deletions are have been reported in individuals with autism, intellectual disability, ADHD, schizophrenia, and/or seizures. Biallelic mutations in NRXN1 are associated with Pitt-Hopkins-like syndrome 2. Of note this patient does not have hyperbreathing, developmental regression, or facial dysmorphism. This deletion appears to explain the patient's medical history. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000678024 | SCV000804179 | uncertain significance | Deafness, autosomal dominant 56 | 2018-04-12 | criteria provided, single submitter | provider interpretation | This duplication was identified in a 13 year old male with learning disabilities, ADHD, articulation disorder, and mild dysmorphic features, and was maternally inherited. The patient's mother has a history of depression, anxiety, and five first trimester miscarriages. This duplication includes the entirity of TNC and DEC1, and a portion of PAPPA and TNFSF8. There is no family history of hearing loss. The clinical significance of carrying three copies of these genes is unclear at this time. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000678025 | SCV000804180 | uncertain significance | Familial hypertrophic cardiomyopathy 16 | 2018-04-12 | criteria provided, single submitter | provider interpretation | This duplication was identified in a 10 year old male with intellectual disability, macrocephaly, autism spectrum disorder, hyperkinesis, sleep disturbances, and hypodontia. Parental testing was not completed. This duplication includes the gene MYOZ2, which is associated with hypertrophic cardiomyopathy. There is one overlapping duplication reported in the literature that includes two additional genes in a patient with Cantu syndrome. The clinical significance of this duplication remains unclear at this time. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000678026 | SCV000804181 | uncertain significance | Usher syndrome, type 2A; Retinitis pigmentosa 39 | 2018-04-12 | criteria provided, single submitter | provider interpretation | This duplication was identified in a 9 year old male with autism spectrum disorder, and a history of ADHD and developmental delays. Parental testing was not completed. This duplication includes two genes, KCTD3 and USH2A. Of note this patient is negative for hearing loss or retinitis pigmentosa. The clinical significance of this duplication remain unclear at this time. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000678027 | SCV000804182 | uncertain significance | Charcot-Marie-Tooth disease type 2K | 2018-04-13 | criteria provided, single submitter | provider interpretation | This deletion was identified in a 3 year old female with receptive-expressive language disorder, premature birth, hypotonia, poor feeding, posteriorly rotated ears, and up-slanting palpebral fissures, and is maternally inherited. This deletion includes six genes, including TMEM70, GDAP1, and JPH1. Individuals with single variants in TMEM70 are typically asymptomatic carriers for mitochondrial complex V deficiency. GADP1 and JPH1 have been described to cause an autosomal dominant Charcot-Marie-Tooth disease type 2K with muscle weakness and atrophy. Patient's mother reportedly has similar facial features and short stature, though no muscle concerns reported. The clinical significance of this deletion remains unclear at this time. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000678028 | SCV000804183 | uncertain significance | not provided | 2018-04-13 | criteria provided, single submitter | provider interpretation | This deletion was identified in a 7 year old female with short stature, macrocephaly, intellectual disability, global developmental delays, dysmorphic features (midface hypoplasia, high forehead, periorbital fullness, thick eyebrows, broad nasal root, low nasal bridge, up-turned nasal tip, short philtrum, full lips, wide mouth, pointed chin), decreased motor strength, joint hyperflexibility, increased lordosis, hyperextensible joints, flat feet, and was found to be maternally inherited. This patient's mother has anxiety, asthma, required learning supports, and had a heart murmur. Mother and maternal grandmother reportedly had a history of infertility. This deleted region contains three genes (RPS6KC1, VASH2, ANGEL2) that are not associated with any known clinical disorders. The clinical significance of this deletion remains unclear at this time. A second maternally-inherited variant was identified through chromosomal microarray, a 10q23.1 duplication of uncertain significance. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000678029 | SCV000804184 | uncertain significance | not provided | 2018-04-13 | criteria provided, single submitter | provider interpretation | This duplication was identified in a 7 year old female with short stature, macrocephaly, intellectual disability, global developmental delays, midface hypoplasia, high forehead, periorbital fullness, thick eyebrows, broad nasal root, low nasal bridge, up-turned nasal tip, short philtrum, full lips, wide mouth, pointed chin, decreased motor strength, joint hyperflexibility, increased lordosis, hyperextensible joints, flat feet, and was found to be maternally inherited. This patient's mother has anxiety, asthma, required learning supports, and had a heart murmur. Mother and maternal grandmother reportedly had a history of infertility. This duplicated region contains six regions, including CDHR1, RGR, and a portion of CCSER2. The clinical significance of carrying three copies of these genes is unclear at this time. A second maternally inherited variant was identified through chromosomal microarray, a 1q32.3 deletion of uncertain significance. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000678030 | SCV000804185 | uncertain significance | not provided | 2018-04-13 | criteria provided, single submitter | provider interpretation | This duplication was identified in a 3 year old female with autism spectrum disorder, overgrowth, macrocephaly, fine motor delay and speech delay, and was maternally inherited. This patient's mother has average cognitive abilities and has anxiety, depression, and OCD. This duplication includes a portion of VCX3A and VCX2, and the entirety of HDHD1, STS, VCX, and PNPLA4. Identical duplications in this region have been reported with conflicting reported pathogenicity (benign-pathogenic) in individuals with features including developmental delay, seizures, autism spectrum disorder, and intellectual disability. The clinical significance of three copies of these genes remains unclear at this time. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000678031 | SCV000804186 | uncertain significance | not provided | 2018-04-13 | criteria provided, single submitter | provider interpretation | This deletion was identified in a 9 year old male with intellectual disability, gross motor delay, infantile benign external hydrocephaly, ADHD, overweight, and sleep difficulties, and was paternally inherited. This patient's father has bipolar and intellectual disability. This deletion includes ADARB2 and a portion of WDR37. Neither of these genes is associated with a known clinical disorder at present. Overlapping deletions have been seen in individuals with developmental delay or dysmorphic features, with some including the gene ZMYND11 that is known to cause intellectual disability. The clinical significance of this deletion remains unclear at this time. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000678033 | SCV000804188 | uncertain significance | not provided | 2018-04-16 | criteria provided, single submitter | provider interpretation | This duplication was identified in a 5 year old male with overgrowth, developmental regression, speech delay, autism spectrum disorder, with history of an EEG with paroxysmal discharges that were considered epileptiform, and a brain MRI that noted scattered foci of T2 hyperintensity in the cerebral white matter bilaterally. Parental testing was not completed. This duplication contains seven genes, including GCSH, and a portion of an eighth gene. The clinical significance of three copies of these genes remains unclear at this time. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000678034 | SCV000804189 | pathogenic | Spinocerebellar ataxia 15 | 2018-04-16 | criteria provided, single submitter | provider interpretation | This deletion was identified in a 4 year old male with global developmental delays, seizures, hypermetropia of both eyes, amblyopia of right eye, hemangioma, dysmorphic features (triangular facies, broad forehead, prominent crus, almond shaped eyes, thick eyebrows, hypoplastic alae, prominent nasal tip, thin lips, narrow palate, pointed chin, decreased motor strength), partial agenesis of the corpus callosum, and prenatal exposure to cigarettes. Parental testing was not completed for the patient's father and the patient's mother tested negative. This deletion contains two genes SUMF1 and SETMAR, and a portion of ITPR1. Heterozygous carriers of SUMF1 variants are most often asymptomatic carriers for multiple sulfatase deficiency. Deletions of ITPF1 have been shown to cause spinocerebellar ataxia type 15. Microarray also identified a likely pathogenic duplication at 13q13.3. |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000678035 | SCV000804190 | likely pathogenic | not provided | 2018-04-16 | criteria provided, single submitter | provider interpretation | This duplication was identified in a 4 year old male with global developmental delays, seizures, hypermetropia of both eyes, amblyopia of right eye, hemangioma, dysmorphic features (triangular facies, broad forehead, prominent crus, almond shaped eyes, thick eyebrows, hypoplastic alae, prominent nasal tip, thin lips, narrow palate, pointed chin, decreased motor strength), partial agenesis of the corpus callosum, and prenatal exposure to cigarettes. Parental testing was not completed for the patient's father and the patient's mother tested negative. This duplication contains two genes, MIR17HG and GPC5, and a portion of GPC6. Similar duplications including MIR17HG and a portion of GPC5 have been reported in two individuals: one with postaxial polydactyly, overgrowth, autistic features, and dysmorphic features and was inherited from a similarly affected mother, and in a patient with developmental delay, autism spectrum disorder, short stature, macrocephaly, brachydactyly, clinodactyly, and dysmorphic features that was also identified in a parent and sibling with similar features. This duplication likely contributes to the phenotype of this patient. Microarray in our patient also identified a pathogenic deletion at 3q26.1, which is associated with spinocerebellar ataxia type 15. |
| Daryl Scott Lab, |
RCV000681464 | SCV000808912 | pathogenic | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | 2017-09-12 | criteria provided, single submitter | clinical testing | |
| Medical Genetics Lab, |
RCV000681666 | SCV000809058 | uncertain significance | Intellectual disability, mild | 2018-09-27 | criteria provided, single submitter | clinical testing | This is a homozygous deletion that involves only the BTBD9 gene, identified in a patient with mild intellectual disability, microcephaly, mild dismorphism. Parents are healthy, second-degree cousins of Italian origin, and are heterozygous carriers of the deletion. A healthy brother is also heterozygous. BTBD9 has not been currently associated to any monogenic disorder in humans, but it is expressed in brain and is a good candidate for neurodevelopmental disorders. |
| Undiagnosed Diseases Network, |
RCV000708564 | SCV000837681 | pathogenic | Combined oxidative phosphorylation deficiency 31 | 2017-08-14 | criteria provided, single submitter | clinical testing | Our patient inherited a p.L162W variant from his father and a partial gene deletion of MIPEP (exons 7 and 8) from his mother. Our analysis identified a loss of copy number encompassing at least 6,956 bp (nucleotide 24,436,682 to 24,443,638) in the long arm of chromosome 13, involving exons 7 and 8 of the MIPEP gene. The signal pattern detected is consistent with a heterozygous deletion. |
| Undiagnosed Diseases Network, |
RCV000708570 | SCV000837689 | pathogenic | Cornelia de Lange syndrome 5 | 2018-03-16 | criteria provided, single submitter | clinical testing | |
| Undiagnosed Diseases Network, |
RCV000708593 | SCV000837720 | likely pathogenic | Combined oxidative phosphorylation deficiency 31 | 2018-01-04 | criteria provided, single submitter | clinical testing | |
| Genetics - |
RCV000722071 | SCV000845782 | pathogenic | Split-hand/foot malformation | 2018-10-31 | criteria provided, single submitter | clinical testing | Duplications of this region are associated with split hand/foot malformation 3. |
| Genetics - |
RCV000722072 | SCV000845790 | pathogenic | Split-hand/foot malformation | criteria provided, single submitter | clinical testing | Duplications of this region are associated with split hand/foot malformation 3. | |
| EGL Genetic Diagnostics, |
RCV000730072 | SCV000857783 | uncertain significance | not provided | 2017-10-24 | criteria provided, single submitter | clinical testing | |
| Undiagnosed Diseases Network, |
RCV000735205 | SCV000863411 | uncertain significance | Branched-chain keto acid dehydrogenase kinase deficiency | 2018-03-16 | criteria provided, single submitter | clinical testing | |
| Undiagnosed Diseases Network, |
RCV000735209 | SCV000863416 | likely pathogenic | TAX1BP3-related arrhythmogenic right ventricular cardiomyopathy | 2018-11-27 | criteria provided, single submitter | clinical testing | A hemizygous c.233T>C (p.M78T) variant in the TAX1BP3 gene was detected in three brothers (14yo male, 20yo male, and male that died suddently at age 17) with similar symptoms. Exome sequencing showed that all three brothers are hemizygous, the mother is heterozygous, and the father is negative for this change. Concurrent array analysis revealed a heterozygous copy number loss of approximately 238 Kb in size (genomic position chr17:3394299- 3632836) in all three brothers. This large deletion encompasses the entire TAX1BP3 gene. SNP arrays detected this deletion as heterozygous in all three brothers and the father. The mother is negative for the deletion. Therefore, the 238 Kb deletion and the c.233T>C (p.M78T) variant are located on two chromosomes (in trans configuration). We believe the combination of the missense variant and deletion in trans is likely pathogenic. |
| Undiagnosed Diseases Network, |
RCV000735211 | SCV000863419 | pathogenic | Early infantile epileptic encephalopathy 4 | 2017-10-23 | criteria provided, single submitter | clinical testing | |
| Undiagnosed Diseases Network, |
RCV000735214 | SCV000863422 | pathogenic | Charcot-Marie-Tooth disease, type IA | 2018-06-26 | criteria provided, single submitter | clinical testing | 1.4Mb pathogenic copy number gain on chromosome 17 at 17p12. Detected by chromosomal microarray. |
| Rare Disease Group, |
RCV000735900 | SCV000864012 | pathogenic | Trichorhinophalangeal dysplasia type I | 2018-12-17 | criteria provided, single submitter | research | |
| Rare Disease Group, |
RCV000735901 | SCV000864013 | pathogenic | Barakat syndrome | 2018-12-17 | criteria provided, single submitter | research | |
| Rare Disease Group, |
RCV000735904 | SCV000864016 | uncertain significance | Cerebellar ataxia, nonprogressive, with mental retardation | 2018-12-17 | criteria provided, single submitter | research | |
| Rare Disease Group, |
RCV000735906 | SCV000864018 | uncertain significance | Cerebellar ataxia, nonprogressive, with mental retardation | 2018-12-17 | criteria provided, single submitter | research | |
| Raymond Lab, |
RCV000850220 | SCV000897737 | pathogenic | Intellectual disability | 2019-02-13 | criteria provided, single submitter | research | |
| Department of Clinical Genetics, |
RCV000768549 | SCV000898485 | pathogenic | Dihydropteridine reductase deficiency | 2019-04-20 | criteria provided, single submitter | research | |
| Biochemistry Laboratory of CDMU, |
RCV000768460 | SCV000899223 | likely pathogenic | not provided | criteria provided, single submitter | case-control | ||
| NIHR Bioresource Rare Diseases, |
RCV000852264 | SCV000900011 | likely pathogenic | Hereditary factor IX deficiency disease | 2019-02-01 | criteria provided, single submitter | research | |
| NIHR Bioresource Rare Diseases, |
RCV000852268 | SCV000900013 | likely pathogenic | Reduced antithrombin III activity | 2019-02-01 | criteria provided, single submitter | research | |
| NIHR Bioresource Rare Diseases, |
RCV000852266 | SCV000900014 | likely pathogenic | Factor X deficiency | 2019-02-01 | criteria provided, single submitter | research | |
| NIHR Bioresource Rare Diseases, |
RCV000852267 | SCV000900015 | likely pathogenic | Abnormal bleeding | 2019-02-01 | criteria provided, single submitter | research | |
| NIHR Bioresource Rare Diseases, |
RCV000852274 | SCV000900016 | uncertain significance | Abnormal bleeding | 2019-02-01 | criteria provided, single submitter | research | |
| NIHR Bioresource Rare Diseases, |
RCV000852258 | SCV000900022 | likely pathogenic | 11q partial monosomy syndrome | 2019-02-01 | criteria provided, single submitter | research | |
| NIHR Bioresource Rare Diseases, |
RCV000852260 | SCV000900023 | likely pathogenic | Macrothrombocytopenia | 2019-02-01 | criteria provided, single submitter | research | |
| NIHR Bioresource Rare Diseases, |
RCV000852273 | SCV000900024 | pathogenic | Macrothrombocytopenia | 2019-02-01 | criteria provided, single submitter | research | |
| NIHR Bioresource Rare Diseases, |
RCV000852269 | SCV000900025 | likely pathogenic | Thrombocytopenia | 2019-02-01 | criteria provided, single submitter | research | |
| NIHR Bioresource Rare Diseases, |
RCV000852261 | SCV000900027 | likely pathogenic | Reduced antithrombin III activity | 2019-02-01 | criteria provided, single submitter | research | |
| NIHR Bioresource Rare Diseases, |
RCV000852271 | SCV000900030 | likely pathogenic | Deep venous thrombosis | 2019-02-01 | criteria provided, single submitter | research | |
| NIHR Bioresource Rare Diseases, |
RCV000852272 | SCV000900031 | likely pathogenic | Reduced protein S activity | 2019-02-01 | criteria provided, single submitter | research | |
| Undiagnosed Diseases Network, |
RCV000786772 | SCV000924629 | likely pathogenic | 1p13.3 deletion syndrome | 2019-06-06 | criteria provided, single submitter | clinical testing | Both loss- and gain-of-function mutations in the KCNA2 gene cause early infantile epileptic encephalopathy-32 (EIEE-32; # 616366) (Allen, et al. Epilepsia. 2016 Jan;57(1):e12-7.). EIEE causes severe epilepsy with variable types of seizures, and neurological deficits, including intellectual disability, and delay of psychomotor and language development. Ataxia, tremor, and myoclonus have also been associated with EIEE. The onset of seizures has been reported to typically occur at less than five years of age and may remit later in childhood, however, one individual with a deletion involving all of the KCNA2 gene was reported to have onset of generalized tonic-clonic seizures at the age of 14 along with intellectual disability (Lal, et al. PLoS Genet. 2015 May 7;11(5):e1005226.) Within this deletion, two other genes, SLC25A24 and GNAI3 have been associated with autosomal dominant disorders. Mutations in SLC25A24 have been associated with Gorlin-Chaudhry-Moss syndrome and Fontaine progeroid syndrome (FPS, OMIM #612289), which have overlapping clinical features. Several studies suggest that the SLC25A24 mutations for these indiviudals induce a gain of function. Mutations of GNAI3 have been identified in patients with auriculocondylar syndrome-1 (ARCND1 or ACS, OMIM #602483), and it is thought that ACS is not caused by GNAI3 haploinsufficiency. For both of these disorders, whole gene deletions would not be expected to result in the same mechanism or clinical features of these disorders. Additionally, six genes are associated with autosomal recessive conditions, for which this deletion likely infers a carrier status. Chudley-McCullough syndrome (CMCS; #604213) is caused by homozygous or compound heterozygous mutation in the GPSM2 gene, while autosomal recessive mental retardation-60 (MRT60; # 617432) and autosomal recessive mental retardation-48 (MRT48; #616269) are caused by mutations in the TAF13 and SLC6A17 genes, respectively. Pontocerebellar hypoplasia type 9 (PCH9; #615809) is caused by mutations in both copies of the AMPD2 gene and frontonasal dysplasia-1 (FND1; OMIM #136760), are caused by mutations in both copies of the ALX3 gene. |
| Undiagnosed Diseases Network, |
RCV000754630 | SCV000930559 | pathogenic | Kilquist Syndrome | 2019-01-01 | criteria provided, single submitter | clinical testing | Homozygous deletion of SLC12A2 due to uniparental paternal isodisomy. Deletion from intron 1 to the beginning of exon 7 (chr5:127441491†127471419) including an inversion of 34 base pairs (chr5:127441491â€127471419delins34). As a carrier, the father shows no symptoms of Kilquist syndrome. This family has been reported in PMID: 30740830. |
| Undiagnosed Diseases Network, |
RCV000791288 | SCV000930566 | likely pathogenic | Kleefstra syndrome 2 | 2017-12-15 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000794161 | SCV000933551 | pathogenic | Biotinidase deficiency | 2018-12-10 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg15Aspfs*55) in the BTD gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BTD-related conditions. Loss-of-function variants in BTD are known to be pathogenic (PMID: 20083419). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000807358 | SCV000947406 | uncertain significance | Biotinidase deficiency | 2018-10-24 | criteria provided, single submitter | clinical testing | This variant, c.1176_1178delCAC, results in the deletion of 1 amino acid(s) of the BTD protein (p.Thr393del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BTD-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Equipe Genetique des Anomalies du Developpement, |
RCV000824954 | SCV000965989 | pathogenic | Intellectual disability, severe | 2016-01-01 | criteria provided, single submitter | clinical testing | |
| Equipe Genetique des Anomalies du Developpement, |
RCV000824957 | SCV000965998 | pathogenic | Marfan syndrome | 2016-01-01 | criteria provided, single submitter | clinical testing | |
| Equipe Genetique des Anomalies du Developpement, |
RCV000825024 | SCV000966219 | pathogenic | Leptin receptor deficiency | 2018-07-17 | criteria provided, single submitter | clinical testing | Observed as a homozygote. |
| Equipe Genetique des Anomalies du Developpement, |
RCV000825026 | SCV000966221 | pathogenic | Chromosome 15q11-q13 duplication syndrome | 2018-10-16 | criteria provided, single submitter | clinical testing | |
| Academic Department of Medical Genetics, |
RCV000850066 | SCV000992232 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-01-26 | criteria provided, single submitter | research | |
| Academic Department of Medical Genetics, |
RCV000850067 | SCV000992233 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-01-26 | criteria provided, single submitter | research | |
| Academic Department of Medical Genetics, |
RCV000850068 | SCV000992234 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-01-26 | criteria provided, single submitter | research | |
| Academic Department of Medical Genetics, |
RCV000850148 | SCV000992321 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-01-26 | criteria provided, single submitter | research | |
| Academic Department of Medical Genetics, |
RCV000850149 | SCV000992322 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-01-26 | criteria provided, single submitter | research | |
| Academic Department of Medical Genetics, |
RCV000850150 | SCV000992323 | pathogenic | Multiple cutaneous leiomyomas; Hereditary cancer-predisposing syndrome | 2018-01-26 | criteria provided, single submitter | research | Observed in an individual with phenotype specific for variants in one of the deted genes |
| UT Southwestern Medical Center, |
RCV000853070 | SCV000992360 | drug response | Imatinib response | 2019-09-09 | criteria provided, single submitter | clinical testing | The variant in PDGRFB has been reported in a patient with multi focal infantile myofibromatosis (Hassan 2019) and was reported to be activating, tumorigenic in mice, and sensitive to imatinib in vitro. Review of this variant suggests a complicated deletion/duplication in which 13 nt are deleted from within exon 12 (breakpoints Chr 5: 149,505,080, Chr 5:149,505,067) and replaced by a duplicated portion of intron 14 and exon 15 (breakpoints intron 14-Chr 5: 149,502,780, exon 15-Chr 5:F2 149,502,629) |
| Wong Mito Lab, |
RCV000850756 | SCV000992989 | benign | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 2019-07-12 | criteria provided, single submitter | clinical testing | The NC_012920.1:m.4388A>G variant in MT-TQ gene is interpreted to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes reported in the guidelines: BS1, BS4, BP4 |
| Wong Mito Lab, |
RCV000851017 | SCV000993251 | benign | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 2019-07-12 | criteria provided, single submitter | clinical testing | The NC_012920.1:m.12153C>T variant in MT-TH gene is interpreted to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes reported in the guidelines: BS1, BS2, BP4 |
| Wong Mito Lab, |
RCV000851027 | SCV000993261 | benign | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 2019-07-12 | criteria provided, single submitter | clinical testing | The NC_012920.1:m.12175T>C variant in MT-TH gene is interpreted to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes reported in the guidelines: BS1, BS2, BP4 |
| Wong Mito Lab, |
RCV000851053 | SCV000993287 | benign | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 2019-07-12 | criteria provided, single submitter | clinical testing | The NC_012920.1:m.12236G>A variant in MT-TS2 gene is interpreted to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes reported in the guidelines: BS1, BS2, BP4 |
| Equipe Genetique des Anomalies du Developpement, |
RCV000851176 | SCV000993410 | likely pathogenic | Marfanoid habitus and intellectual disability | criteria provided, single submitter | research | ||
| Invitae | RCV000884662 | SCV001028057 | benign | not provided | 2018-04-16 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000906026 | SCV001050642 | benign | not provided | 2018-11-15 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000924704 | SCV001070224 | likely benign | not provided | 2019-01-15 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000929314 | SCV001074942 | likely benign | not provided | 2018-07-05 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000946500 | SCV001092642 | benign | not provided | 2018-12-24 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000958490 | SCV001105338 | benign | not provided | 2018-12-24 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000961049 | SCV001108078 | likely benign | not provided | 2018-07-05 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000967060 | SCV001114430 | benign | not provided | 2018-12-20 | criteria provided, single submitter | clinical testing | |
| Athena Diagnostics Inc | RCV000992385 | SCV001144614 | benign | not provided | 2018-11-19 | criteria provided, single submitter | clinical testing | |
| Athena Diagnostics Inc | RCV000993350 | SCV001146238 | uncertain significance | not provided | 2019-05-28 | criteria provided, single submitter | clinical testing | |
| Athena Diagnostics Inc | RCV000993351 | SCV001146239 | pathogenic | not provided | 2018-10-04 | criteria provided, single submitter | clinical testing | The best available variant frequency is uninformative because it is below the disease allele frequency. Found in at least one symptomatic patient. Predicted to have a damaging effect on the protein. Damaging to protein function(s) relevant to disease mechanism. Moderate co-segregation with disease. However, available data lack unaffected family members. |
| Ce |
RCV000996094 | SCV001150564 | uncertain significance | not provided | 2017-11-01 | criteria provided, single submitter | clinical testing | |
| Endocrinology Clinic, |
RCV000050247 | SCV000082856 | pathogenic | Isolated growth hormone deficiency type 1B | 2013-04-22 | no assertion criteria provided | case-control | Converted during submission to Pathogenic. |
| ITMI | RCV000122425 | SCV000083976 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
| ITMI | RCV000122426 | SCV000083977 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
| ITMI | RCV000122428 | SCV000083979 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
| ITMI | RCV000122429 | SCV000083980 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
| ITMI | RCV000122430 | SCV000083981 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
| ITMI | RCV000119920 | SCV000084050 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
| Breast Cancer Information Core |
RCV000111479 | SCV000143921 | uncertain significance | Breast-ovarian cancer, familial 1 | 1997-09-04 | no assertion criteria provided | clinical testing | |
| Breast Cancer Information Core |
RCV000111480 | SCV000143922 | uncertain significance | Breast-ovarian cancer, familial 1 | 1999-06-21 | no assertion criteria provided | clinical testing | |
| Breast Cancer Information Core |
RCV000111482 | SCV000143924 | uncertain significance | Breast-ovarian cancer, familial 1 | 2013-05-21 | no assertion criteria provided | clinical testing | |
| Breast Cancer Information Core |
RCV000111483 | SCV000143925 | pathogenic | Breast-ovarian cancer, familial 1 | 2003-11-25 | no assertion criteria provided | clinical testing | |
| Breast Cancer Information Core |
RCV000111484 | SCV000143926 | pathogenic | Breast-ovarian cancer, familial 1 | 2013-05-21 | no assertion criteria provided | clinical testing | |
| Breast Cancer Information Core |
RCV000111485 | SCV000143927 | uncertain significance | Breast-ovarian cancer, familial 1 | 2000-01-01 | no assertion criteria provided | clinical testing | |
| Breast Cancer Information Core |
RCV000111486 | SCV000143928 | uncertain significance | Breast-ovarian cancer, familial 1 | 1997-09-04 | no assertion criteria provided | clinical testing | |
| Breast Cancer Information Core |
RCV000111487 | SCV000143929 | uncertain significance | Breast-ovarian cancer, familial 1 | no assertion criteria provided | clinical testing | ||
| Breast Cancer Information Core |
RCV000111491 | SCV000143933 | pathogenic | Breast-ovarian cancer, familial 1 | 2002-05-29 | no assertion criteria provided | clinical testing | |
| Center for Medical Genetics Ghent, |
RCV000240951 | SCV000165997 | likely pathogenic | Seizures; Intellectual disability | no assertion criteria provided | case-control | ||
| Center for Medical Genetics Ghent, |
RCV000240885 | SCV000165998 | likely pathogenic | Seizures; Intellectual disability | no assertion criteria provided | case-control | ||
| University of British Columbia | RCV000148350 | SCV000172278 | likely pathogenic | Adams-Oliver syndrome 5 | 2014-07-01 | no assertion criteria provided | research | |
| Human Genome and Stem Cell Research Center, |
RCV000208726 | SCV000172690 | likely pathogenic | Autism spectrum disorder; Epilepsy | 2010-12-23 | no assertion criteria provided | research | |
| Human Genome and Stem Cell Research Center, |
RCV000208738 | SCV000172691 | uncertain significance | Autism spectrum disorder; Epilepsy | 2012-01-01 | no assertion criteria provided | research | |
| Human Genome and Stem Cell Research Center, |
RCV000208716 | SCV000172692 | uncertain significance | Autism spectrum disorder; Epilepsy | 2012-01-01 | no assertion criteria provided | research | |
| Human Genome and Stem Cell Research Center, |
RCV000208725 | SCV000172693 | likely pathogenic | Autism spectrum disorder | 2012-01-01 | no assertion criteria provided | research | |
| Human Genome and Stem Cell Research Center, |
RCV000208737 | SCV000172694 | likely pathogenic | Autism spectrum disorder | 2012-01-01 | no assertion criteria provided | research | |
| Human Genome and Stem Cell Research Center, |
RCV000208719 | SCV000172695 | likely pathogenic | Autism spectrum disorder | 2012-01-01 | no assertion criteria provided | research | |
| Human Genome and Stem Cell Research Center, |
RCV000208728 | SCV000172696 | likely pathogenic | Autism spectrum disorder | 2012-01-01 | no assertion criteria provided | research | |
| Human Genome and Stem Cell Research Center, |
RCV000208742 | SCV000172697 | likely pathogenic | Autism spectrum disorder | 2011-08-12 | no assertion criteria provided | research | |
| Human Genome and Stem Cell Research Center, |
RCV000208718 | SCV000172698 | pathogenic | Autism spectrum disorder; Epilepsy | 2011-08-12 | no assertion criteria provided | research | |
| Human Genome and Stem Cell Research Center, |
RCV000208731 | SCV000172699 | pathogenic | Autism spectrum disorder | 2011-08-12 | no assertion criteria provided | research | |
| Human Genome and Stem Cell Research Center, |
RCV000208741 | SCV000172700 | pathogenic | Autism spectrum disorder; Epilepsy | 2011-08-12 | no assertion criteria provided | research | |
| Human Genome and Stem Cell Research Center, |
RCV000208724 | SCV000172701 | uncertain significance | Autism spectrum disorder; Epilepsy | 2011-08-12 | no assertion criteria provided | research | |
| Human Genome and Stem Cell Research Center, |
RCV000208735 | SCV000172702 | uncertain significance | Autism spectrum disorder; Epilepsy | 2011-08-12 | no assertion criteria provided | research | |
| Human Genome and Stem Cell Research Center, |
RCV000208739 | SCV000172703 | uncertain significance | Autism spectrum disorder | 2012-01-01 | no assertion criteria provided | research | |
| Human Genome and Stem Cell Research Center, |
RCV000208722 | SCV000172704 | uncertain significance | Autism spectrum disorder | 2012-01-01 | no assertion criteria provided | research | |
| Human Genome and Stem Cell Research Center, |
RCV000208734 | SCV000172705 | uncertain significance | Autism spectrum disorder | 2011-08-12 | no assertion criteria provided | research | |
| Human Genome and Stem Cell Research Center, |
RCV000208746 | SCV000172706 | uncertain significance | Autism spectrum disorder; Epilepsy | 2012-01-01 | no assertion criteria provided | research | |
| Dept. |
RCV000170334 | SCV000189426 | uncertain significance | Charcot-Marie-Tooth disease | 2014-10-01 | no assertion criteria provided | research | |
| Dept. |
RCV000170335 | SCV000189427 | likely pathogenic | Charcot-Marie-Tooth disease | 2014-10-01 | no assertion criteria provided | research | |
| Dept. |
RCV000170336 | SCV000189428 | uncertain significance | Charcot-Marie-Tooth disease | 2014-10-01 | no assertion criteria provided | research | |
| Department of Molecular Endocrinology, |
RCV000149431 | SCV000190042 | pathogenic | Uniparental disomy, paternal, chromosome 14 | 2010-06-01 | no assertion criteria provided | clinical testing | |
| Institute of Molecular and Cell Biology, |
RCV000161147 | SCV000191104 | not provided | Small for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161148 | SCV000191105 | not provided | Large for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161151 | SCV000191108 | not provided | Gestational diabetes mellitus uncontrolled | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161152 | SCV000191109 | not provided | Small for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161153 | SCV000191110 | not provided | Preeclampsia | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161154 | SCV000191111 | not provided | Large for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161155 | SCV000191112 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161156 | SCV000191113 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161157 | SCV000191114 | not provided | Gestational diabetes mellitus uncontrolled | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161158 | SCV000191115 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161159 | SCV000191116 | not provided | Gestational diabetes mellitus uncontrolled | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161160 | SCV000191117 | not provided | Large for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161161 | SCV000191118 | not provided | Preeclampsia | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161163 | SCV000191120 | not provided | Large for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161166 | SCV000191123 | not provided | Large for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161167 | SCV000191124 | not provided | Small for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161168 | SCV000191125 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161169 | SCV000191126 | not provided | Preeclampsia | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161170 | SCV000191127 | not provided | Small for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161171 | SCV000191128 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161172 | SCV000191129 | not provided | Small for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161173 | SCV000191130 | not provided | Large for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161174 | SCV000191131 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161175 | SCV000191132 | not provided | Small for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161176 | SCV000191133 | not provided | Large for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161177 | SCV000191134 | not provided | Preeclampsia | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161178 | SCV000191135 | not provided | Gestational diabetes mellitus uncontrolled | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161179 | SCV000191136 | not provided | Small for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161180 | SCV000191137 | not provided | Preeclampsia | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161181 | SCV000191138 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161182 | SCV000191139 | not provided | Large for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161183 | SCV000191140 | not provided | Gestational diabetes mellitus uncontrolled | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161184 | SCV000191141 | not provided | Gestational diabetes mellitus uncontrolled | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161185 | SCV000191142 | not provided | Large for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161187 | SCV000191144 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161188 | SCV000191145 | not provided | Gestational diabetes mellitus uncontrolled | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161189 | SCV000191146 | not provided | Small for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161190 | SCV000191147 | not provided | Large for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161192 | SCV000191149 | not provided | Small for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161193 | SCV000191150 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161194 | SCV000191151 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161197 | SCV000191154 | not provided | Large for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161199 | SCV000191156 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161200 | SCV000191157 | not provided | Small for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161202 | SCV000191159 | not provided | Gestational diabetes mellitus uncontrolled | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161203 | SCV000191160 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161204 | SCV000191161 | not provided | Preeclampsia | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161205 | SCV000191162 | not provided | Gestational diabetes mellitus uncontrolled | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161206 | SCV000191163 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161207 | SCV000191164 | not provided | Gestational diabetes mellitus uncontrolled | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161208 | SCV000191165 | not provided | Small for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161209 | SCV000191166 | not provided | Large for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161210 | SCV000191167 | not provided | Preeclampsia | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161212 | SCV000191169 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161217 | SCV000191174 | not provided | Large for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161218 | SCV000191175 | not provided | Large for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161222 | SCV000191179 | not provided | Gestational diabetes mellitus uncontrolled | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161223 | SCV000191180 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161224 | SCV000191181 | not provided | Large for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161225 | SCV000191182 | not provided | Preeclampsia | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161226 | SCV000191183 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161227 | SCV000191184 | not provided | Large for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161228 | SCV000191185 | not provided | Preeclampsia | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161229 | SCV000191186 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161230 | SCV000191187 | not provided | Gestational diabetes mellitus uncontrolled | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161232 | SCV000191189 | not provided | Small for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161233 | SCV000191190 | not provided | Small for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161234 | SCV000191191 | not provided | Gestational diabetes mellitus uncontrolled | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161236 | SCV000191193 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161237 | SCV000191194 | not provided | Gestational diabetes mellitus uncontrolled | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161238 | SCV000191195 | not provided | Small for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161239 | SCV000191196 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161240 | SCV000191197 | not provided | Small for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161241 | SCV000191198 | not provided | Small for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161242 | SCV000191199 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161243 | SCV000191200 | not provided | Large for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161244 | SCV000191201 | not provided | Gestational diabetes mellitus uncontrolled | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161245 | SCV000191202 | not provided | Large for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161246 | SCV000191203 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161248 | SCV000191205 | not provided | Large for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161249 | SCV000191206 | not provided | Gestational diabetes mellitus uncontrolled | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161250 | SCV000191207 | not provided | Preeclampsia | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161252 | SCV000191209 | not provided | Small for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161253 | SCV000191210 | not provided | Gestational diabetes mellitus uncontrolled | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161254 | SCV000191211 | not provided | Large for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161255 | SCV000191212 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161256 | SCV000191213 | not provided | Gestational diabetes mellitus uncontrolled | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161261 | SCV000191218 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161262 | SCV000191219 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161263 | SCV000191220 | not provided | Gestational diabetes mellitus uncontrolled | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161264 | SCV000191221 | not provided | Gestational diabetes mellitus uncontrolled | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161265 | SCV000191222 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161266 | SCV000191223 | not provided | Small for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161267 | SCV000191224 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161268 | SCV000191225 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161269 | SCV000191226 | not provided | Small for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161270 | SCV000191227 | not provided | Gestational diabetes mellitus uncontrolled | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161271 | SCV000191228 | not provided | Preeclampsia | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161278 | SCV000191235 | not provided | Small for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161279 | SCV000191236 | not provided | Large for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161280 | SCV000191237 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161281 | SCV000191238 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161282 | SCV000191239 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161283 | SCV000191240 | not provided | Small for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161284 | SCV000191241 | not provided | Large for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161285 | SCV000191242 | not provided | Preeclampsia | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161286 | SCV000191243 | not provided | Preeclampsia | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161287 | SCV000191244 | not provided | Preeclampsia | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161288 | SCV000191245 | not provided | Gestational diabetes mellitus uncontrolled | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161289 | SCV000191246 | not provided | Gestational diabetes mellitus uncontrolled | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161290 | SCV000191247 | not provided | Gestational diabetes mellitus uncontrolled | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161291 | SCV000191248 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161292 | SCV000191249 | not provided | Large for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161293 | SCV000191250 | not provided | Small for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161294 | SCV000191251 | not provided | Preeclampsia | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161298 | SCV000191255 | not provided | Gestational diabetes mellitus uncontrolled | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161300 | SCV000191257 | not provided | Gestational diabetes mellitus uncontrolled | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161301 | SCV000191258 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161302 | SCV000191259 | not provided | Gestational diabetes mellitus uncontrolled | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161303 | SCV000191260 | not provided | Preeclampsia | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161304 | SCV000191261 | not provided | Gestational diabetes mellitus uncontrolled | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161305 | SCV000191262 | not provided | Small for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161306 | SCV000191263 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161307 | SCV000191264 | not provided | Preeclampsia | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161311 | SCV000191268 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161312 | SCV000191269 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161313 | SCV000191270 | not provided | Small for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161314 | SCV000191271 | not provided | Large for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161315 | SCV000191272 | not provided | Preeclampsia | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161316 | SCV000191273 | not provided | Gestational diabetes mellitus uncontrolled | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161317 | SCV000191274 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161318 | SCV000191275 | not provided | Small for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161319 | SCV000191276 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161320 | SCV000191277 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161321 | SCV000191278 | not provided | Small for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161327 | SCV000191284 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161328 | SCV000191285 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161329 | SCV000191286 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161331 | SCV000191288 | not provided | Gestational diabetes mellitus uncontrolled | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161332 | SCV000191289 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161333 | SCV000191290 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161334 | SCV000191291 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161335 | SCV000191292 | not provided | Small for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161336 | SCV000191293 | not provided | Gestational diabetes mellitus uncontrolled | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161337 | SCV000191294 | not provided | Gestational diabetes mellitus uncontrolled | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161339 | SCV000191296 | not provided | Small for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161340 | SCV000191297 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161341 | SCV000191298 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161342 | SCV000191299 | not provided | Preeclampsia | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161343 | SCV000191300 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161344 | SCV000191301 | not provided | Small for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161345 | SCV000191302 | not provided | Gestational diabetes mellitus uncontrolled | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161346 | SCV000191303 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161347 | SCV000191304 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161349 | SCV000191306 | not provided | Small for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161352 | SCV000191309 | not provided | Large for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161353 | SCV000191310 | not provided | Large for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161354 | SCV000191311 | not provided | Preeclampsia | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161356 | SCV000191313 | not provided | Gestational diabetes mellitus uncontrolled | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161358 | SCV000191315 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161359 | SCV000191316 | not provided | Small for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161360 | SCV000191317 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161361 | SCV000191318 | not provided | Gestational diabetes mellitus uncontrolled | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161362 | SCV000191319 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161363 | SCV000191320 | not provided | Small for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161364 | SCV000191321 | not provided | Gestational diabetes mellitus uncontrolled | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161365 | SCV000191322 | not provided | Gestational diabetes mellitus uncontrolled | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161366 | SCV000191323 | not provided | Large for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161367 | SCV000191324 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161368 | SCV000191325 | not provided | Small for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161369 | SCV000191326 | not provided | Large for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161370 | SCV000191327 | not provided | Gestational diabetes mellitus uncontrolled | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161371 | SCV000191328 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161372 | SCV000191329 | not provided | Preeclampsia | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161373 | SCV000191330 | not provided | Gestational diabetes mellitus uncontrolled | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161374 | SCV000191331 | not provided | Gestational diabetes mellitus uncontrolled | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161375 | SCV000191332 | not provided | Gestational diabetes mellitus uncontrolled | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161376 | SCV000191333 | not provided | Gestational diabetes mellitus uncontrolled | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161377 | SCV000191334 | not provided | Small for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161378 | SCV000191335 | not provided | Preeclampsia | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161379 | SCV000191336 | not provided | Preeclampsia | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161380 | SCV000191337 | not provided | Gestational diabetes mellitus uncontrolled | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161381 | SCV000191338 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161382 | SCV000191339 | not provided | Small for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161383 | SCV000191340 | not provided | Preeclampsia | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161384 | SCV000191341 | not provided | Large for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161385 | SCV000191342 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161386 | SCV000191343 | not provided | Large for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161387 | SCV000191344 | not provided | Preeclampsia | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161388 | SCV000191345 | not provided | Gestational diabetes mellitus uncontrolled | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161389 | SCV000191346 | not provided | Preeclampsia | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161390 | SCV000191347 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161391 | SCV000191348 | not provided | Large for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161392 | SCV000191349 | not provided | Small for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161393 | SCV000191350 | not provided | Preeclampsia | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161394 | SCV000191351 | not provided | Gestational diabetes mellitus uncontrolled | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161395 | SCV000191352 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161396 | SCV000191353 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161397 | SCV000191354 | not provided | Gestational diabetes mellitus uncontrolled | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161400 | SCV000191357 | not provided | Gestational diabetes mellitus uncontrolled | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161404 | SCV000191361 | not provided | Gestational diabetes mellitus uncontrolled | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161405 | SCV000191362 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161406 | SCV000191363 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161407 | SCV000191364 | not provided | Small for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161409 | SCV000191366 | not provided | Large for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161410 | SCV000191367 | not provided | Gestational diabetes mellitus uncontrolled | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161411 | SCV000191368 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161412 | SCV000191369 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161413 | SCV000191370 | not provided | Large for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161414 | SCV000191371 | not provided | Large for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161415 | SCV000191372 | not provided | Large for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161416 | SCV000191373 | not provided | Small for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161417 | SCV000191374 | not provided | Small for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161418 | SCV000191375 | not provided | Small for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161419 | SCV000191376 | not provided | Large for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161420 | SCV000191377 | not provided | Preeclampsia | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161422 | SCV000191379 | not provided | Small for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161423 | SCV000191380 | not provided | Large for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161424 | SCV000191381 | not provided | Large for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161425 | SCV000191382 | not provided | Preeclampsia | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161426 | SCV000191383 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161427 | SCV000191384 | not provided | Preeclampsia | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161431 | SCV000191388 | not provided | Gestational diabetes mellitus uncontrolled | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161432 | SCV000191389 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161435 | SCV000191392 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161436 | SCV000191393 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161437 | SCV000191394 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161438 | SCV000191395 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161439 | SCV000191396 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161440 | SCV000191397 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161441 | SCV000191398 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161442 | SCV000191399 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161443 | SCV000191400 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161444 | SCV000191401 | not provided | Preeclampsia | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161445 | SCV000191402 | not provided | Preeclampsia | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161446 | SCV000191403 | not provided | Gestational diabetes mellitus uncontrolled | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161447 | SCV000191404 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161448 | SCV000191405 | not provided | Large for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161449 | SCV000191406 | not provided | Large for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161450 | SCV000191407 | not provided | Small for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161453 | SCV000191410 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161454 | SCV000191411 | not provided | Preeclampsia | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161455 | SCV000191412 | not provided | Small for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161456 | SCV000191413 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161459 | SCV000191416 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161460 | SCV000191417 | not provided | Gestational diabetes mellitus uncontrolled | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161462 | SCV000191419 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161463 | SCV000191420 | not provided | Gestational diabetes mellitus uncontrolled | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161464 | SCV000191421 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161465 | SCV000191422 | not provided | Gestational diabetes mellitus uncontrolled | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161466 | SCV000191423 | not provided | Preeclampsia | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161467 | SCV000191424 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161468 | SCV000191425 | not provided | Gestational diabetes mellitus uncontrolled | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161469 | SCV000191426 | not provided | Preeclampsia | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161470 | SCV000191427 | not provided | Gestational diabetes mellitus uncontrolled | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161472 | SCV000191429 | not provided | Gestational diabetes mellitus uncontrolled | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161474 | SCV000191431 | not provided | Preeclampsia | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161475 | SCV000191432 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161476 | SCV000191433 | not provided | Large for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161477 | SCV000191434 | not provided | Preeclampsia | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161478 | SCV000191435 | not provided | Gestational diabetes mellitus uncontrolled | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161479 | SCV000191436 | not provided | Small for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161480 | SCV000191437 | not provided | Preeclampsia | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161481 | SCV000191438 | not provided | Small for gestational age | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161482 | SCV000191439 | not provided | Preeclampsia | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161484 | SCV000191441 | not provided | Normal pregnancy | no assertion provided | case-control | ||
| Institute of Molecular and Cell Biology, |
RCV000161485 | SCV000191442 | not provided | Large for gestational age | no assertion provided | case-control |