Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000861927 | SCV001002348 | benign | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002381911 | SCV002668833 | likely benign | Inborn genetic diseases | 2022-03-25 | 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, |
RCV000861927 | SCV002094644 | likely benign | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 2020-06-11 | no assertion criteria provided | clinical testing |