Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
CHEO Genetics Diagnostic Laboratory, |
RCV000769579 | SCV000900976 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2017-01-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001503611 | SCV001708467 | likely benign | Adams-Oliver syndrome 5 | 2022-08-21 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001503611 | SCV002553795 | likely benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002271022 | SCV002553796 | likely benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000769579 | SCV002662475 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2022-04-21 | 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. |