ClinVar Miner

Submissions for variant NM_005957.5(MTHFR):c.1064C>T (p.Pro355Leu)

dbSNP: rs794727869
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179909 SCV000232229 uncertain significance not provided 2014-07-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002478598 SCV002791210 uncertain significance Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Neural tube defects, folate-sensitive; Schizophrenia; Thrombophilia due to thrombin defect 2021-08-23 criteria provided, single submitter clinical testing

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