Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000774390 | SCV000908092 | likely benign | Cardiomyopathy | 2018-10-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002458383 | SCV002615065 | likely benign | Cardiovascular phenotype | 2020-01-10 | 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. |
Invitae | RCV003768375 | SCV004678835 | likely benign | Hypertrophic cardiomyopathy | 2023-02-04 | criteria provided, single submitter | clinical testing |