Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001515927 | SCV001724111 | benign | Arrhythmogenic right ventricular dysplasia 11 | 2021-05-13 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001806215 | SCV002051965 | likely benign | Cardiomyopathy | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004616749 | SCV005114971 | likely benign | Cardiovascular phenotype | 2024-04-18 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |