Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001841156 | SCV001359771 | likely benign | Cardiac arrhythmia | 2018-11-27 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV003541665 | SCV002469757 | likely benign | not provided | 2024-09-05 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV001841156 | SCV004818001 | likely benign | Cardiac arrhythmia | 2024-02-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004033439 | SCV005031277 | likely benign | Cardiovascular phenotype | 2023-12-16 | 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. |