Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000629156 | SCV000750072 | likely benign | Hypertrophic cardiomyopathy | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001185510 | SCV001351742 | likely benign | Cardiomyopathy | 2021-03-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002381458 | SCV002697200 | benign | Cardiovascular phenotype | 2022-09-08 | criteria provided, single submitter | clinical testing | This alteration is classified as 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, |
RCV001185510 | SCV004239343 | benign | Cardiomyopathy | 2022-12-01 | criteria provided, single submitter | clinical testing | |
CSER _CC_NCGL, |
RCV000148689 | SCV000190416 | uncertain significance | Primary familial hypertrophic cardiomyopathy | 2014-06-01 | no assertion criteria provided | research |