Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002313430 | SCV000739302 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2016-07-13 | 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. |
Invitae | RCV000648745 | SCV000770566 | likely benign | Aortic aneurysm, familial thoracic 7 | 2023-12-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001764734 | SCV002008456 | likely benign | not provided | 2021-10-12 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV002313430 | SCV003837876 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2022-03-10 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001764734 | SCV003916838 | likely benign | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | MYLK: BP4, BP7 |