Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000861873 | SCV001002284 | likely benign | Adams-Oliver syndrome 5 | 2023-12-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002352506 | SCV002656284 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2020-01-03 | 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. |
Ce |
RCV003432792 | SCV004161996 | likely benign | not provided | 2023-05-01 | criteria provided, single submitter | clinical testing | NOTCH1: BP4, BP7 |