Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000521807 | SCV000619581 | likely benign | not provided | 2019-03-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002314912 | SCV000738975 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2017-08-29 | 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. |
Invitae | RCV002060274 | SCV002493861 | likely benign | Congenital contractural arachnodactyly | 2024-01-31 | criteria provided, single submitter | clinical testing |