Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000866521 | SCV001007629 | likely benign | Hypertrophic cardiomyopathy | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001177366 | SCV001341564 | likely benign | Cardiomyopathy | 2019-03-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002363233 | SCV002665930 | likely benign | Cardiovascular phenotype | 2020-03-27 | 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. |
CHEO Genetics Diagnostic Laboratory, |
RCV001177366 | SCV004239391 | likely benign | Cardiomyopathy | 2023-05-11 | criteria provided, single submitter | clinical testing |