Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001087930 | SCV000557195 | likely benign | Long QT syndrome | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000459474 | SCV001797234 | likely benign | not provided | 2021-06-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002374838 | SCV002671978 | benign | Cardiovascular phenotype | 2019-07-15 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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. |