Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000618931 | SCV000735884 | likely benign | Cardiovascular phenotype | 2017-06-14 | 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. |
Color Diagnostics, |
RCV001182936 | SCV001348538 | likely benign | Cardiomyopathy | 2018-11-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002531743 | SCV003273856 | likely benign | Catecholaminergic polymorphic ventricular tachycardia 1 | 2023-01-01 | criteria provided, single submitter | clinical testing |