Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001188284 | SCV001355306 | likely benign | Cardiomyopathy | 2019-12-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001502010 | SCV001706832 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2023-10-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002418638 | SCV002681074 | likely benign | Cardiovascular phenotype | 2021-11-19 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003230643 | SCV003929366 | likely benign | not specified | 2023-04-10 | criteria provided, single submitter | clinical testing |