Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001189201 | SCV001356442 | likely benign | Cardiomyopathy | 2019-08-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001401836 | SCV001603670 | likely benign | Hypertrophic cardiomyopathy | 2023-07-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002418640 | SCV002728433 | likely benign | Cardiovascular phenotype | 2019-07-30 | 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. |