Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001181826 | SCV001347065 | likely benign | Cardiomyopathy | 2019-06-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001477248 | SCV001681479 | likely benign | Hypertrophic cardiomyopathy | 2023-05-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003163422 | SCV003911868 | likely benign | Cardiovascular phenotype | 2023-03-07 | 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. |