Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001404521 | SCV001606422 | likely benign | Adams-Oliver syndrome 5 | 2023-08-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000863690 | SCV001773557 | likely benign | not provided | 2018-08-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001404521 | SCV002553790 | benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002271086 | SCV002553792 | benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002372406 | SCV002672301 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2021-02-03 | 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. |