Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
CHEO Genetics Diagnostic Laboratory, |
RCV000770621 | SCV000902072 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2021-08-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000770621 | SCV002641719 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2022-10-07 | 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 | RCV002533967 | SCV003454234 | likely benign | Adams-Oliver syndrome 5 | 2023-10-04 | criteria provided, single submitter | clinical testing |