Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002540847 | SCV001057976 | likely benign | Catecholaminergic polymorphic ventricular tachycardia 1 | 2023-07-31 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001180498 | SCV001345436 | likely benign | Cardiomyopathy | 2019-12-16 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001180498 | SCV002042905 | likely benign | Cardiomyopathy | 2020-03-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002320085 | SCV002607043 | likely benign | Cardiovascular phenotype | 2019-02-08 | 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. |