Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000629035 | SCV000749945 | likely benign | Hypertrophic cardiomyopathy | 2024-01-06 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001179129 | SCV001343736 | likely benign | Cardiomyopathy | 2020-04-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002343191 | SCV002621572 | likely benign | Cardiovascular phenotype | 2019-03-02 | 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. |
CHEO Genetics Diagnostic Laboratory, |
RCV001179129 | SCV004239457 | likely benign | Cardiomyopathy | 2022-07-06 | criteria provided, single submitter | clinical testing |