Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000865856 | SCV001006882 | benign | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002399891 | SCV002706877 | likely benign | Inborn genetic diseases | 2022-07-25 | 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, |
RCV000865856 | SCV002094622 | likely benign | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 2020-03-04 | no assertion criteria provided | clinical testing |