Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000687258 | SCV000814817 | benign | Adams-Oliver syndrome 5 | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002397373 | SCV002712854 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2019-03-08 | 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. |
Fulgent Genetics, |
RCV002493151 | SCV002797669 | uncertain significance | Aortic valve disease 1; Adams-Oliver syndrome 5 | 2021-08-23 | criteria provided, single submitter | clinical testing |