Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002310971 | SCV000319695 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2015-05-28 | 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. |
Gene |
RCV001697606 | SCV000533537 | likely benign | not provided | 2020-07-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000473394 | SCV000559925 | likely benign | Adams-Oliver syndrome 5 | 2023-08-18 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000473394 | SCV002553884 | benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270169 | SCV002553885 | benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV002310971 | SCV003838461 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2021-11-02 | criteria provided, single submitter | clinical testing |