Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002529949 | SCV000760718 | benign | Catecholaminergic polymorphic ventricular tachycardia 1 | 2023-12-23 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001183236 | SCV001348916 | benign | Cardiomyopathy | 2018-11-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001672908 | SCV001888441 | benign | not provided | 2016-06-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002424415 | SCV002740743 | likely benign | Cardiovascular phenotype | 2022-03-01 | 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. |