Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002536790 | SCV001021092 | likely benign | Catecholaminergic polymorphic ventricular tachycardia 1 | 2023-06-17 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001171194 | SCV001333889 | benign | Cardiomyopathy | 2018-03-28 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001171194 | SCV001344471 | likely benign | Cardiomyopathy | 2020-03-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001561061 | SCV001783588 | likely benign | not provided | 2021-06-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002320058 | SCV002630614 | likely benign | Cardiovascular phenotype | 2022-08-27 | 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. |