Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000644649 | SCV000766352 | likely benign | Arrhythmogenic right ventricular dysplasia 11 | 2024-01-13 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000780209 | SCV000917284 | likely benign | not specified | 2019-08-28 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001187680 | SCV001354546 | likely benign | Cardiomyopathy | 2018-12-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001637112 | SCV001847828 | likely benign | not provided | 2021-02-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002397244 | SCV002704539 | likely benign | Cardiovascular phenotype | 2020-07-16 | 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. |