Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
CHEO Genetics Diagnostic Laboratory, |
RCV001799352 | SCV002043519 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2021-04-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002544363 | SCV003250802 | benign | Adams-Oliver syndrome 5 | 2023-11-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001799352 | SCV003861096 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2023-01-01 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003323934 | SCV004029560 | likely benign | not specified | 2023-07-21 | criteria provided, single submitter | clinical testing |