Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000774294 | SCV000907996 | likely benign | Cardiomyopathy | 2018-10-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003153834 | SCV001707016 | likely benign | Catecholaminergic polymorphic ventricular tachycardia 1 | 2023-09-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002352284 | SCV002655806 | 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: seen in unaffected individuals, 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. |
All of Us Research Program, |
RCV004001383 | SCV004820789 | likely benign | Catecholaminergic polymorphic ventricular tachycardia | 2023-08-15 | criteria provided, single submitter | clinical testing |