ClinVar Miner

Submissions for variant NM_005957.4(MTHFR):c.1004G>A (p.Arg335His) (rs543016186)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000407968 SCV000347801 uncertain significance Neural tube defects, folate-sensitive 2016-06-14 criteria provided, single submitter clinical testing
University Children's Hospital, University of Zurich RCV000167606 SCV000218487 pathogenic Homocysteinemia due to MTHFR deficiency no assertion criteria provided clinical testing

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