Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001704441 | SCV000530069 | likely benign | not provided | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000549019 | SCV000658879 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000549019 | SCV000739665 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2016-05-13 | 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. |
Color Diagnostics, |
RCV000549019 | SCV000913848 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-10-18 | criteria provided, single submitter | clinical testing |