ClinVar Miner

Submissions for variant NM_005957.4(MTHFR):c.1683G>A (p.Trp561Ter) (rs786204030)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio di Genetica e Neuroscienze,Istituto Giannina Gaslini RCV000709684 SCV000734853 risk factor Neural tube defect 2012-02-17 criteria provided, single submitter research
University Children's Hospital, University of Zurich RCV000167618 SCV000218499 pathogenic Homocysteinemia due to MTHFR deficiency no assertion criteria provided clinical testing

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