Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001841926 | SCV000907836 | likely benign | Cardiac arrhythmia | 2018-10-02 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000939139 | SCV001084977 | likely benign | Long QT syndrome | 2023-11-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002442583 | SCV002732225 | likely benign | Cardiovascular phenotype | 2019-09-03 | 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, |
RCV000939139 | SCV004843901 | likely benign | Long QT syndrome | 2023-09-17 | criteria provided, single submitter | clinical testing |