Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000241862 | SCV000320051 | likely benign | Cardiovascular phenotype | 2015-08-05 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
Invitae | RCV000869448 | SCV001010876 | likely benign | Arrhythmogenic right ventricular dysplasia 11 | 2021-06-24 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001190243 | SCV001357693 | likely benign | Cardiomyopathy | 2018-11-27 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003995718 | SCV004816080 | likely benign | Familial isolated arrhythmogenic right ventricular dysplasia | 2023-08-15 | criteria provided, single submitter | clinical testing |