ClinVar Miner

Submissions for variant NM_005957.5(MTHFR):c.1515C>T (p.Gly505=)

dbSNP: rs376927238
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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) RCV000180627 SCV000233105 uncertain significance not provided 2015-01-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001493852 SCV001698493 likely benign Homocystinuria due to methylene tetrahydrofolate reductase deficiency 2024-01-28 criteria provided, single submitter clinical testing

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