Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000466927 | SCV000561693 | likely benign | Arrhythmogenic right ventricular dysplasia 11 | 2023-01-27 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001183506 | SCV001349255 | likely benign | Cardiomyopathy | 2019-01-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002244946 | SCV002513558 | likely benign | not provided | 2022-05-17 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |
Ambry Genetics | RCV002418474 | SCV002717863 | likely benign | Cardiovascular phenotype | 2020-04-09 | 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. |