Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000231030 | SCV000290280 | likely benign | Adams-Oliver syndrome 5 | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001697684 | SCV000534138 | likely benign | not provided | 2020-08-03 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 22225590) |
Ambry Genetics | RCV002313952 | SCV000739401 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2016-02-05 | 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. |
Genome- |
RCV000231030 | SCV002554358 | benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270047 | SCV002554359 | benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing |