Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000178534 | SCV000230629 | uncertain significance | not provided | 2014-07-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002314646 | SCV000739147 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2017-03-16 | 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 | RCV003761805 | SCV001677790 | likely benign | FG syndrome | 2023-12-02 | criteria provided, single submitter | clinical testing |