Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
CHEO Genetics Diagnostic Laboratory, |
RCV000768769 | SCV000900139 | uncertain significance | Cardiomyopathy | 2015-12-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002533948 | SCV001002981 | likely benign | Catecholaminergic polymorphic ventricular tachycardia 1 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000768769 | SCV001346710 | likely benign | Cardiomyopathy | 2019-02-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002332547 | SCV002633834 | likely benign | Cardiovascular phenotype | 2020-08-25 | 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. |