Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000842329 | SCV000984338 | likely benign | not provided | 2020-07-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002235141 | SCV001616894 | likely benign | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED | 2022-10-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004029238 | SCV005032117 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2023-11-09 | 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. |
Natera, |
RCV001414753 | SCV002083832 | likely benign | Classic homocystinuria | 2020-02-12 | no assertion criteria provided | clinical testing |