ClinVar Miner

Submissions for variant NM_005957.5(MTHFR):c.1500G>A (p.Trp500Ter)

dbSNP: rs116620395
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002211073 SCV002496457 pathogenic not provided 2022-01-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV004572080 SCV005055991 likely pathogenic Neural tube defects, folate-sensitive 2024-03-27 criteria provided, single submitter clinical testing

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