Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001721174 | SCV000237828 | likely benign | not provided | 2020-08-07 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000345460 | SCV000420571 | uncertain significance | Hypertrophic cardiomyopathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000381427 | SCV000420572 | uncertain significance | Myopathy, myofibrillar, 9, with early respiratory failure | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000291952 | SCV000420573 | uncertain significance | Early-onset myopathy with fatal cardiomyopathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000346821 | SCV000420574 | uncertain significance | Dilated Cardiomyopathy, Dominant | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000398371 | SCV000420575 | uncertain significance | Tibial muscular dystrophy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000311155 | SCV000420576 | uncertain significance | Limb-girdle muscular dystrophy, recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000469120 | SCV000543102 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-10-07 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001844075 | SCV002104049 | uncertain significance | not specified | 2022-02-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002372136 | SCV002668133 | uncertain significance | Cardiovascular phenotype | 2019-06-25 | criteria provided, single submitter | clinical testing | The p.S23351L variant (also known as c.70052C>T), located in coding exon 176 of the TTN gene, results from a C to T substitution at nucleotide position 70052. The serine at codon 23351 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV001721174 | SCV003823604 | uncertain significance | not provided | 2023-01-09 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004537562 | SCV004117589 | uncertain significance | TTN-related disorder | 2022-12-09 | criteria provided, single submitter | clinical testing | The TTN c.97247C>T variant is predicted to result in the amino acid substitution p.Ser32416Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.012% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179407236-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |