Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000243168 | SCV000319945 | likely benign | Cardiovascular phenotype | 2015-07-15 | 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. |
Color Diagnostics, |
RCV001190245 | SCV001357695 | likely benign | Cardiomyopathy | 2020-04-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001362836 | SCV001558879 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2023-07-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001589304 | SCV001814458 | likely benign | not provided | 2019-04-18 | criteria provided, single submitter | clinical testing |