Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001712312 | SCV000535366 | likely benign | not provided | 2021-01-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000863408 | SCV001004061 | likely benign | Aortic aneurysm, familial thoracic 7 | 2023-10-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003298455 | SCV004001635 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2023-03-25 | 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. |
CHEO Genetics Diagnostic Laboratory, |
RCV003298455 | SCV004239508 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2023-01-09 | criteria provided, single submitter | clinical testing |