Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000551633 | SCV000659374 | benign | Adams-Oliver syndrome 5 | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000841992 | SCV000983984 | likely benign | not provided | 2019-10-17 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001170717 | SCV001333318 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2022-08-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001170717 | SCV002701145 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-12-26 | 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. |