Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003103819 | SCV000760723 | likely benign | Catecholaminergic polymorphic ventricular tachycardia 1 | 2022-11-22 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000773289 | SCV000906981 | likely benign | Cardiomyopathy | 2018-10-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002388058 | SCV002674342 | likely benign | Cardiovascular phenotype | 2021-10-06 | 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. |