Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001186479 | SCV001352913 | likely benign | Cardiomyopathy | 2019-02-21 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001409545 | SCV001611574 | likely benign | Arrhythmogenic right ventricular dysplasia 10 | 2023-03-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002346114 | SCV002644971 | likely benign | Cardiovascular phenotype | 2018-07-04 | 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, |
RCV004003266 | SCV004819503 | likely benign | Arrhythmogenic right ventricular cardiomyopathy | 2023-11-02 | criteria provided, single submitter | clinical testing |