Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000863474 | SCV000725858 | likely benign | not provided | 2019-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002064226 | SCV002412294 | benign | Adams-Oliver syndrome 5 | 2022-07-28 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002064226 | SCV002554897 | benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270835 | SCV002554900 | benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002438599 | SCV002747939 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2021-11-30 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |