Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000171889 | SCV000050901 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Gene |
RCV000171889 | SCV000233408 | uncertain significance | not provided | 2022-11-17 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Reported in a cohort of individuals not selected for a history of arrhythmia, cardiomyopathy, or family history of sudden cardiac death who underwent exome analysis (Ng et al., 2013); clinical details were not provided; This variant is associated with the following publications: (PMID: 23861362) |
Ambry Genetics | RCV000242264 | SCV000317867 | benign | Cardiovascular phenotype | 2022-01-06 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Invitae | RCV000644644 | SCV000766347 | likely benign | Arrhythmogenic right ventricular dysplasia 11 | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001179306 | SCV001343937 | likely benign | Cardiomyopathy | 2018-11-18 | criteria provided, single submitter | clinical testing |