Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000842270 | SCV000984276 | likely benign | not provided | 2019-11-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002068613 | SCV002370285 | likely benign | Adams-Oliver syndrome 5 | 2022-04-23 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002068613 | SCV002553831 | likely benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002271074 | SCV002553832 | likely benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV003150361 | SCV003838457 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2021-07-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003150361 | SCV004051312 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2023-08-11 | 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. |