Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001842628 | SCV001339625 | likely benign | Cardiac arrhythmia | 2019-03-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001438948 | SCV001641829 | likely benign | Long QT syndrome | 2023-09-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001619893 | SCV001846315 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003293920 | SCV003996586 | likely benign | Cardiovascular phenotype | 2023-06-09 | 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. |