Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001184018 | SCV001349889 | likely benign | Cardiomyopathy | 2019-02-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001480566 | SCV001684886 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2023-05-14 | criteria provided, single submitter | clinical testing | |
Ce |
RCV002068371 | SCV002497387 | likely benign | not provided | 2022-01-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002365868 | SCV002666894 | likely benign | Cardiovascular phenotype | 2021-04-26 | 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. |