Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000946327 | SCV001092452 | likely benign | Hypertrophic cardiomyopathy | 2023-06-13 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001176582 | SCV001340605 | likely benign | Cardiomyopathy | 2018-12-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002409257 | SCV002723995 | likely benign | Cardiovascular phenotype | 2018-07-05 | 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. |