Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001843070 | SCV001345602 | likely benign | Cardiac arrhythmia | 2020-01-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001468367 | SCV001672413 | likely benign | Long QT syndrome | 2023-08-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002356840 | SCV002622645 | likely benign | Cardiovascular phenotype | 2021-10-01 | 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. |