ClinVar Miner

Submissions for variant NM_005957.5(MTHFR):c.1516T>G (p.Tyr506Asp)

dbSNP: rs786204026
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV000167614 SCV002579602 likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency 2021-11-05 criteria provided, single submitter clinical testing
University Children's Hospital, University of Zurich RCV000167614 SCV000218495 pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency no assertion criteria provided clinical testing

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