Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000771509 | SCV000903995 | benign | Cardiomyopathy | 2018-10-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002533988 | SCV001009967 | benign | Catecholaminergic polymorphic ventricular tachycardia 1 | 2023-12-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003307404 | SCV003999089 | likely benign | Cardiovascular phenotype | 2023-03-24 | 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. |