Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000612614 | SCV000728595 | likely benign | not specified | 2018-01-02 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Labcorp Genetics |
RCV000870181 | SCV001011663 | likely benign | Long QT syndrome | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001841774 | SCV001357943 | likely benign | Cardiac arrhythmia | 2018-10-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002395620 | SCV002696928 | likely benign | Cardiovascular phenotype | 2019-05-03 | 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. |
Fulgent Genetics, |
RCV002476365 | SCV002804350 | likely benign | Atrial fibrillation, familial, 3; Beckwith-Wiedemann syndrome; Long QT syndrome 1; Jervell and Lange-Nielsen syndrome 1; Short QT syndrome type 2 | 2021-07-27 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV000870181 | SCV004836444 | likely benign | Long QT syndrome | 2024-01-11 | criteria provided, single submitter | clinical testing |