Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
CHEO Genetics Diagnostic Laboratory, |
RCV000770355 | SCV000901795 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2017-02-15 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000770355 | SCV001350052 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2020-03-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000770355 | SCV002493143 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000770355 | SCV002684876 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2020-02-19 | 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. |