Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000459630 | SCV000555885 | likely benign | Long QT syndrome | 2023-12-12 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001841368 | SCV001346214 | likely benign | Cardiac arrhythmia | 2020-03-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002356724 | SCV002624121 | likely benign | Cardiovascular phenotype | 2020-12-05 | 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. |
All of Us Research Program, |
RCV000459630 | SCV004844100 | likely benign | Long QT syndrome | 2023-12-01 | criteria provided, single submitter | clinical testing |