Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001188410 | SCV001355468 | likely benign | Cardiomyopathy | 2019-11-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001406988 | SCV001608954 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2023-11-24 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003235487 | SCV003933767 | likely benign | not specified | 2023-05-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003373014 | SCV004085959 | likely benign | Cardiovascular phenotype | 2023-09-01 | 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. |