Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002313382 | SCV000739148 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2016-07-15 | 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 | RCV003762838 | SCV001004468 | likely benign | FG syndrome | 2023-08-02 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000863756 | SCV001150351 | likely benign | not provided | 2020-12-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000863756 | SCV002028080 | likely benign | not provided | 2021-05-19 | criteria provided, single submitter | clinical testing |