Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000866468 | SCV001007569 | likely benign | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003938276 | SCV004764081 | likely benign | MTHFR-related condition | 2019-11-20 | 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, |
RCV000866468 | SCV001455755 | likely benign | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 2020-09-16 | no assertion criteria provided | clinical testing |