Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000475671 | SCV000559948 | likely benign | Adams-Oliver syndrome 5 | 2023-11-12 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001171106 | SCV001333784 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2019-03-13 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000475671 | SCV002554446 | likely benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270544 | SCV002554447 | likely benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001171106 | SCV002622045 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2022-06-27 | 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. |