Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001718604 | SCV000720973 | likely benign | not provided | 2019-05-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000865692 | SCV001006698 | likely benign | Brugada syndrome 4 | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002402015 | SCV002704921 | likely benign | Cardiovascular phenotype | 2019-12-06 | 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. |