Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000329314 | SCV000344376 | uncertain significance | not provided | 2016-08-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001087100 | SCV000659501 | benign | Adams-Oliver syndrome 5 | 2023-11-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002429234 | SCV002677673 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2021-12-02 | 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. |