ClinVar Miner

Submissions for variant NM_005957.5(MTHFR):c.1392C>T (p.Thr464=)

gnomAD frequency: 0.00064  dbSNP: rs79157191
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180626 SCV000233104 uncertain significance not provided 2015-02-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001079521 SCV001004113 likely benign Homocystinuria due to methylene tetrahydrofolate reductase deficiency 2024-01-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003967447 SCV004778598 likely benign MTHFR-related disorder 2021-01-05 no assertion criteria provided 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).

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