Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001179103 | SCV001343700 | likely benign | Cardiomyopathy | 2019-05-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001460798 | SCV001664678 | likely benign | Hypertrophic cardiomyopathy | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002365848 | SCV002656955 | likely benign | Cardiovascular phenotype | 2020-01-16 | 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. |