Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001056791 | SCV001221255 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2023-03-08 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001191126 | SCV001358827 | likely benign | Cardiomyopathy | 2020-04-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002445299 | SCV002612568 | likely benign | Cardiovascular phenotype | 2022-03-23 | 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. |