Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000617358 | SCV000740238 | likely benign | Cardiovascular phenotype | 2017-10-20 | 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, |
RCV001185559 | SCV001351808 | likely benign | Cardiomyopathy | 2019-08-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003748267 | SCV004458238 | likely benign | Hypertrophic cardiomyopathy | 2023-12-31 | criteria provided, single submitter | clinical testing |