Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000642330 | SCV000763999 | likely benign | Arrhythmogenic right ventricular dysplasia 10 | 2023-12-26 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001177866 | SCV001342152 | likely benign | Cardiomyopathy | 2018-10-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001692246 | SCV001909416 | likely benign | not provided | 2020-09-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002440292 | SCV002748371 | likely benign | Cardiovascular phenotype | 2018-05-30 | 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. |
ARUP Laboratories, |
RCV001692246 | SCV004564486 | likely benign | not provided | 2023-03-22 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004003981 | SCV004821853 | likely benign | Arrhythmogenic right ventricular cardiomyopathy | 2024-02-05 | criteria provided, single submitter | clinical testing |