Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000862996 | SCV001003581 | likely benign | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 2023-12-13 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003908185 | SCV004736410 | likely benign | MTHFR-related condition | 2019-04-01 | 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, |
RCV000862996 | SCV001463164 | likely benign | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 2020-01-06 | no assertion criteria provided | clinical testing |