Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000536336 | SCV000627379 | likely benign | Long QT syndrome | 2023-09-06 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001841420 | SCV000914033 | likely benign | Cardiac arrhythmia | 2018-10-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003159741 | SCV003867634 | likely benign | Cardiovascular phenotype | 2022-11-02 | 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, |
RCV000536336 | SCV004836461 | likely benign | Long QT syndrome | 2023-12-18 | criteria provided, single submitter | clinical testing |