Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
CHEO Genetics Diagnostic Laboratory, |
RCV000769352 | SCV000900740 | uncertain significance | Cardiomyopathy | 2015-09-30 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000769352 | SCV001343418 | likely benign | Cardiomyopathy | 2019-07-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001479041 | SCV001683332 | likely benign | Hypertrophic cardiomyopathy | 2022-10-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000233867 | SCV001788605 | likely benign | not provided | 2018-09-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002390603 | SCV002699949 | likely benign | Cardiovascular phenotype | 2021-01-21 | 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. |