Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000545145 | SCV000627435 | likely benign | Long QT syndrome | 2023-10-25 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001841430 | SCV001347097 | likely benign | Cardiac arrhythmia | 2019-09-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002404379 | SCV002714746 | likely benign | Cardiovascular phenotype | 2018-01-05 | 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, |
RCV000545145 | SCV004843951 | likely benign | Long QT syndrome | 2024-02-05 | criteria provided, single submitter | clinical testing |