Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
CHEO Genetics Diagnostic Laboratory, |
RCV000769582 | SCV000900979 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2016-07-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001397551 | SCV001599304 | likely benign | Adams-Oliver syndrome 5 | 2022-06-19 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001397551 | SCV002553816 | likely benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002271023 | SCV002553817 | likely benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000769582 | SCV003861092 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2022-12-06 | 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. |