Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001078531 | SCV000290739 | likely benign | Arrhythmogenic right ventricular dysplasia 11 | 2023-10-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000842757 | SCV000984788 | likely benign | not provided | 2019-12-18 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001185256 | SCV001351431 | likely benign | Cardiomyopathy | 2019-02-21 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001185256 | SCV002043574 | likely benign | Cardiomyopathy | 2019-08-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002450705 | SCV002615087 | likely benign | Cardiovascular phenotype | 2019-04-16 | 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. |