Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001840997 | SCV001354253 | likely benign | Cardiac arrhythmia | 2018-11-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001427318 | SCV001629993 | likely benign | Long QT syndrome | 2023-11-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003353198 | SCV004076735 | likely benign | Cardiovascular phenotype | 2023-08-02 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |