Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002522768 | SCV000541657 | likely benign | Catecholaminergic polymorphic ventricular tachycardia 1 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001178584 | SCV001343060 | likely benign | Cardiomyopathy | 2018-12-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002436381 | SCV002750964 | likely benign | Cardiovascular phenotype | 2019-04-15 | 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, |
RCV001178584 | SCV003838723 | likely benign | Cardiomyopathy | 2021-06-18 | criteria provided, single submitter | clinical testing |