Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001179564 | SCV001344256 | likely benign | Cardiomyopathy | 2018-11-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001479462 | SCV001683758 | likely benign | Arrhythmogenic right ventricular dysplasia 10 | 2023-12-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002393398 | SCV002705396 | likely benign | Cardiovascular phenotype | 2022-08-14 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |