Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000467215 | SCV000561399 | likely benign | Arrhythmogenic right ventricular dysplasia 10 | 2023-12-07 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001185794 | SCV001352089 | likely benign | Cardiomyopathy | 2019-09-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003168914 | SCV003855989 | likely benign | Cardiovascular phenotype | 2022-11-27 | 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. |
All of Us Research Program, |
RCV004002153 | SCV004819473 | likely benign | Arrhythmogenic right ventricular cardiomyopathy | 2023-12-01 | criteria provided, single submitter | clinical testing |