Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001843213 | SCV001350216 | likely benign | Cardiac arrhythmia | 2019-01-20 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002067947 | SCV002440782 | likely benign | Long QT syndrome | 2023-08-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002447005 | SCV002682629 | likely benign | Cardiovascular phenotype | 2018-09-02 | 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. |
All of Us Research Program, |
RCV002067947 | SCV004838800 | likely benign | Long QT syndrome | 2023-07-10 | criteria provided, single submitter | clinical testing |