Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000457982 | SCV000559874 | likely benign | Adams-Oliver syndrome 5 | 2023-12-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001721526 | SCV000727371 | likely benign | not provided | 2021-05-28 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001170170 | SCV001332720 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2019-02-07 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000457982 | SCV002555058 | benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270519 | SCV002555059 | benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001170170 | SCV002709949 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2022-10-02 | 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. |