Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002235928 | SCV001015872 | likely benign | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED | 2024-01-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002409098 | SCV002670060 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2021-08-22 | 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 |
RCV003432838 | SCV004153728 | likely benign | not provided | 2023-03-01 | criteria provided, single submitter | clinical testing | CBS: BP4, BP7 |