Total submissions: 28
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics Munich, |
RCV000170538 | SCV000223133 | pathogenic | Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome | 2014-12-02 | criteria provided, single submitter | research | |
Institute of Human Genetics Munich, |
RCV000170540 | SCV000223135 | pathogenic | Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome | 2014-12-02 | criteria provided, single submitter | research | |
Institute of Human Genetics Munich, |
RCV000170541 | SCV000223136 | pathogenic | Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome | 2014-12-02 | criteria provided, single submitter | research | |
Institute of Human Genetics Munich, |
RCV000170542 | SCV000223137 | pathogenic | Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome | 2014-12-02 | criteria provided, single submitter | research | |
Institute of Human Genetics Munich, |
RCV000170543 | SCV000223138 | pathogenic | Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome | 2014-12-02 | criteria provided, single submitter | research | |
Neurogenetics Research Program, |
RCV001796558 | SCV001737589 | likely pathogenic | Cerebral palsy | 2021-06-10 | criteria provided, single submitter | research | |
Genomic Diagnostics Laboratory, |
RCV001647442 | SCV001761655 | pathogenic | ALG1-congenital disorder of glycosylation | 2021-07-23 | criteria provided, single submitter | research | This variant in ALG1 gene has been never reported , and was absent from large population studies. Additionally, an in vitro functional study performed by our group indicate that it retaines the intron 1. In summary, this variant meets ACMG criteria to be classified as pathogenic . |
Unidade de Genética Molecular, |
RCV002236175 | SCV002014676 | pathogenic | Becker muscular dystrophy | criteria provided, single submitter | clinical testing | A ~8Mb genomic inversion involving DMD intron 74 and a region located upstream of the PRDX4 gene was detected by Whole genome sequencing in a patient with Becker Muscular Dystrophy. Muscle mRNA analysis confirmed the presence of aberrant transcripts. | |
CFTR- |
RCV002284246 | SCV002573607 | pathogenic | Cystic fibrosis | 2018-01-29 | criteria provided, single submitter | curation | |
Institute of Human Genetics, |
RCV002284571 | SCV002573932 | pathogenic | Cystic fibrosis | 2022-09-05 | criteria provided, single submitter | curation | This variant was identified in 1 patient with a clinically confirmed diagnosis of cystic fibrosis. The variant was classified in the context of a project re-classifying variants in the German Cystic Fibrosis Registry (Muko.e.V.). Link: https://www.muko.info/angebote/qualitaetsmanagement/register/cf-einrichtungen/mukoweb. Criteria applied: PVS1, PM2_SUP, PM3_STR, PP4 This variant has previously been described in the literature as: c.(164+1_165-1)_(1584+1_1585-1)del(2619+1_2620-1) or CFTRdele3-10,14b-16 |
Clinical Biochemistry Laboratory, |
RCV003447385 | SCV004174335 | pathogenic | Primary hyperoxaluria, type II | 2023-10-27 | criteria provided, single submitter | clinical testing | ACMG:PVS1 PS3 PM2 PM3 PP4 |
OMIM | RCV000000279 | SCV000020423 | pathogenic | Xeroderma pigmentosum, group C | 1993-12-01 | no assertion criteria provided | literature only | |
OMIM | RCV001799584 | SCV000021227 | risk factor | Myocardial infarction, susceptibility to | 2006-01-01 | no assertion criteria provided | literature only | |
OMIM | RCV000011206 | SCV000031433 | pathogenic | X-linked Alport syndrome | 2019-01-31 | no assertion criteria provided | literature only | |
OMIM | RCV000014500 | SCV000034751 | risk factor | Coronary heart disease, susceptibility to, 7 | 2004-10-01 | no assertion criteria provided | literature only | |
OMIM | RCV004720230 | SCV000035692 | uncertain significance | not specified | 2005-10-01 | no assertion criteria provided | literature only | |
OMIM | RCV000015532 | SCV000035797 | benign | APOLIPOPROTEIN(a), TYPE C POLYMORPHISM | 2020-08-07 | no assertion criteria provided | literature only | |
OMIM | RCV000015533 | SCV000035798 | benign | APOLIPOPROTEIN(a), TYPE D POLYMORPHISM | 2020-08-07 | no assertion criteria provided | literature only | |
OMIM | RCV000016022 | SCV000036289 | pathogenic | Guttmacher syndrome | 2002-05-01 | no assertion criteria provided | literature only | |
OMIM | RCV000022537 | SCV000043826 | risk factor | Pregnancy loss, recurrent, susceptibility to, 3 | 2007-03-01 | no assertion criteria provided | literature only | |
Clinical Biochemistry Laboratory, |
RCV000186455 | SCV000239812 | pathogenic | Primary hyperoxaluria, type II | 2014-11-27 | no assertion criteria provided | research | |
Laboratory of Gastroenterology and Hepatology, |
RCV000239375 | SCV000257477 | pathogenic | Congenital disorders of glycosylation type II | no assertion criteria provided | research | ||
Foundation for Research in Genetics and Endocrinology, |
RCV000495844 | SCV000581393 | likely pathogenic | Autosomal recessive nonsyndromic hearing loss 63 | 2016-08-31 | no assertion criteria provided | clinical testing | MYH9 gene: The mutation c.922G>A (p.V308I) in exon 9 of MYH9 gene is reported in 1000 genome (0.04%) and ExAc (0.01%) databases and it is found to be pathogenic by Mutation Taster2, SIFT, Polyphen2 and LRT. The dbSNP number of this mutation is rs577429531. LRTOMT gene: The variant c.613_614insAGCT in exon 9 of LRTOMT gene is not reported in 1000 Genome and ExAC databases and it is found to be damaging by Mutation Taster2. The dbSNP number of this mutation is rs797044907. The proband, born of a non-consanguineous marriage, presented with clinical indication of dysplastic semicircular canals. She was diagnosed with bilateral incomplete cochlear partition. Upon further investigation her father was found to be heterozygous for c.922G>A (p.V308 I) mutation in MYH9 gene and her mother was found to be heterozygous for c.613_614insAGCT (p.S207AfsTer 38) variant in LRTOMT gene. During subsequent pregnancy, the CVS sample of mother is found to be heterozygous for c.922G>A (p.V308I) variant in MYH9 gene. |
Center for Statistical Genetics, |
RCV000655893 | SCV000608345 | pathogenic | Hearing loss, autosomal recessive | 2017-10-26 | no assertion criteria provided | research | Digenic inheritance |
Centro Nacional de Biotecnologia, |
RCV001171633 | SCV000999906 | affects | Rheumatoid arthritis | 2019-11-30 | no assertion criteria provided | research | Using four independent cohorts of arthritic patients, we identified an inverse correlation between SOCS1 mRNA expression and disease activity. Lower baseline SOCS1 levels were associated with poorer disease control. In vitro expression assays indicated that the minor allele of rs4780355 correlated with reduced SOCS1 expression, supporting a functional relationship between this SNP and disease progression, but only when the microsatellite 3x(TTTTC) is cis-acting. |
Servicio de Hematología y Oncología médica, |
RCV001779980 | SCV002016218 | pathogenic | Hereditary antithrombin deficiency | no assertion criteria provided | research | AntiFXa 54%; Ag 41% | |
Undiagnosed Diseases Network, |
RCV002509904 | SCV002818563 | pathogenic | SSR4-congenital disorder of glycosylation | 2022-03-15 | no assertion criteria provided | clinical testing | It showed that there is a deletion which involves IDH3G, PLXNB3, SRPK3, SSR4, and HG38. This is on chromosome X and is described as G (153757278_153757299DEL; 153757300_153778281INV; 153778282_153795224DEL). This is a de novo variant which is associated with Congenital Disorder of Glycosylation type 1Y. |
Clin |
RCV004586480 | SCV005073730 | affects | PAIN SENSITIVITY QUANTITATIVE TRAIT LOCUS 1 | no assertion criteria provided | literature only | The paper by Habib et al., 2019 (PubMed 30929760) describes "a new human genetic disorder in a patient with hypoalgesia, altered fear and memory symptoms, and a non-anxious disposition is attributable to co-inheritance of a microdeletion in a novel pseudogene and a known FAAH hypomorphic SNP." The mechanism was not established but one hypothesis is that "the FAAH-OUT transcript normally functions as a decoy for microRNAs as a result of the high sequence homology, and protects FAAH mRNA from degradation." |