Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001494367 | SCV001699022 | likely benign | Arrhythmogenic right ventricular dysplasia 10 | 2023-09-04 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001525135 | SCV001735175 | likely benign | Cardiomyopathy | 2020-08-24 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004003235 | SCV004819987 | likely benign | Arrhythmogenic right ventricular cardiomyopathy | 2023-06-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004994126 | SCV005575782 | likely benign | Cardiovascular phenotype | 2024-10-27 | 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. |