Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000860942 | SCV001001128 | likely benign | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003169090 | SCV003911282 | likely benign | Inborn genetic diseases | 2023-02-23 | 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 |
RCV003424380 | SCV004128477 | likely benign | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | MTHFR: BP4, BP7 |
Prevention |
RCV003965630 | SCV004782124 | likely benign | MTHFR-related condition | 2022-08-29 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Natera, |
RCV000860942 | SCV001459042 | uncertain significance | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 2020-01-24 | no assertion criteria provided | clinical testing |