Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000150519 | SCV000197711 | likely benign | not specified | 2014-07-03 | criteria provided, single submitter | clinical testing | p.Ala592Ala in exon 12 of DSC2: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. |
Invitae | RCV001087864 | SCV000766360 | likely benign | Arrhythmogenic right ventricular dysplasia 11 | 2023-06-17 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000770534 | SCV000901981 | likely benign | Cardiomyopathy | 2016-08-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000827676 | SCV000969334 | likely benign | not provided | 2021-02-04 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000770534 | SCV001341855 | likely benign | Cardiomyopathy | 2018-11-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002399523 | SCV002714835 | likely benign | Cardiovascular phenotype | 2020-08-31 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |