ClinVar Miner

Submissions for variant NM_005957.5(MTHFR):c.237G>T (p.Arg79Ser)

dbSNP: rs1553187509
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000625779 SCV000746325 likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency 2017-12-03 criteria provided, single submitter clinical testing

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