Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002540228 | SCV001050487 | likely benign | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED | 2023-12-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002382058 | SCV002689307 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2022-07-19 | 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. |
Natera, |
RCV000905886 | SCV001455969 | likely benign | Classic homocystinuria | 2020-04-29 | no assertion criteria provided | clinical testing |