ClinVar Miner

Submissions for variant NM_005957.5(MTHFR):c.587G>A (p.Gly196Asp)

dbSNP: rs786204014
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University Children's Hospital, University of Zurich RCV000167597 SCV000218478 pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency no assertion criteria provided clinical testing

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