Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
CHEO Genetics Diagnostic Laboratory, |
RCV001171096 | SCV001333774 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2019-04-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001171096 | SCV003861536 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2023-02-05 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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 | RCV003586272 | SCV004319426 | benign | Adams-Oliver syndrome 5 | 2023-09-18 | criteria provided, single submitter | clinical testing |