Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001189621 | SCV001356935 | likely benign | Cardiomyopathy | 2020-04-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002069078 | SCV002361374 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2022-05-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002375102 | SCV002673866 | likely benign | Cardiovascular phenotype | 2022-08-22 | 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. |