Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000619124 | SCV000737516 | likely benign | Cardiovascular phenotype | 2016-06-22 | 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. |
Invitae | RCV003638669 | SCV001661529 | likely benign | Catecholaminergic polymorphic ventricular tachycardia 1 | 2023-08-04 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV003532131 | SCV004360716 | likely benign | Cardiomyopathy | 2021-10-01 | criteria provided, single submitter | clinical testing |