Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003655325 | SCV001014052 | likely benign | not provided | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001842545 | SCV001354349 | likely benign | Cardiac arrhythmia | 2019-11-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002354673 | SCV002657577 | likely benign | Cardiovascular phenotype | 2019-09-13 | 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. |