Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001487098 | SCV001691582 | likely benign | Arrhythmogenic right ventricular dysplasia 10 | 2024-01-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001664898 | SCV001881058 | benign | not provided | 2015-06-23 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001806204 | SCV002051875 | likely benign | Cardiomyopathy | 2021-06-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002396164 | SCV002699267 | likely benign | Cardiovascular phenotype | 2019-05-15 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
All of Us Research Program, |
RCV004007163 | SCV004819535 | likely benign | Arrhythmogenic right ventricular cardiomyopathy | 2023-07-22 | criteria provided, single submitter | clinical testing |