Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
CHEO Genetics Diagnostic Laboratory, |
RCV001171114 | SCV001333794 | likely benign | Cardiomyopathy | 2018-02-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001421073 | SCV001623588 | likely benign | Dilated cardiomyopathy 1W | 2023-11-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003353188 | SCV004056852 | likely benign | Cardiovascular phenotype | 2023-08-29 | 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. |