ClinVar Miner

Submissions for variant NM_005957.5(MTHFR):c.1429C>T (p.Gln477Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004795439 SCV005418590 likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Neural tube defects, folate-sensitive; Schizophrenia; Thrombophilia due to thrombin defect criteria provided, single submitter clinical testing PVS1+PM2_Supporting

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