Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000242169 | SCV000317947 | likely benign | Cardiovascular phenotype | 2019-03-22 | 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, |
RCV001190659 | SCV001358213 | likely benign | Cardiomyopathy | 2018-12-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001495650 | SCV001700333 | likely benign | Hypertrophic cardiomyopathy | 2023-11-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000231266 | SCV001940608 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing |