Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002526392 | SCV000541722 | likely benign | Catecholaminergic polymorphic ventricular tachycardia 1 | 2023-08-16 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001181427 | SCV001346570 | likely benign | Cardiomyopathy | 2023-12-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002379412 | SCV002670456 | likely benign | Cardiovascular phenotype | 2021-12-02 | 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. |