Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001479978 | SCV001684286 | likely benign | Hypertrophic cardiomyopathy | 2023-09-21 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001525483 | SCV001735611 | likely benign | Cardiomyopathy | 2020-12-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002336847 | SCV002636057 | likely benign | Cardiovascular phenotype | 2022-03-25 | 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. |