Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000622100 | SCV000740129 | likely benign | Cardiovascular phenotype | 2017-03-02 | 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. |
Color Diagnostics, |
RCV001191775 | SCV001359675 | likely benign | Cardiomyopathy | 2019-01-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001399520 | SCV001601310 | likely benign | Hypertrophic cardiomyopathy | 2023-10-21 | criteria provided, single submitter | clinical testing |