Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001584868 | SCV001813804 | likely benign | not provided | 2020-06-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002072306 | SCV002456674 | likely benign | Adams-Oliver syndrome 5 | 2023-11-25 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002072306 | SCV002554936 | benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002271271 | SCV002554937 | benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002425000 | SCV002741651 | 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: 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. |