Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001843118 | SCV001347699 | likely benign | Cardiac arrhythmia | 2018-11-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001481777 | SCV001686127 | likely benign | Long QT syndrome | 2023-01-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001732064 | SCV001982041 | likely benign | not provided | 2021-03-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002320405 | SCV002609286 | likely benign | Cardiovascular phenotype | 2022-09-28 | 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. |