Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001190362 | SCV001357825 | likely benign | Cardiomyopathy | 2019-11-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001348271 | SCV001542567 | likely benign | Hypertrophic cardiomyopathy | 2022-07-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003380869 | SCV004090590 | likely benign | Cardiovascular phenotype | 2023-08-24 | 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. |