ClinVar Miner

Submissions for variant NM_005957.5(MTHFR):c.1033C>T (p.Arg345Cys)

gnomAD frequency: 0.00001  dbSNP: rs759031330
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University Children's Hospital, University of Zurich RCV000416797 SCV000258405 pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency 2004-12-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000416797 SCV001810508 likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency 2021-07-22 criteria provided, single submitter clinical testing

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