ClinVar Miner

Submissions for variant NM_005957.5(MTHFR):c.700G>A (p.Asp234Asn)

gnomAD frequency: 0.00004  dbSNP: rs45589033
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000642248 SCV000763908 likely benign Homocystinuria due to methylene tetrahydrofolate reductase deficiency 2024-11-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV000642248 SCV001455757 uncertain significance Homocystinuria due to methylene tetrahydrofolate reductase deficiency 2020-09-16 no assertion criteria provided clinical testing
Department of Traditional Chinese Medicine, Fujian Provincial Hospital RCV001843363 SCV002102516 uncertain significance Thrombophilia due to thrombin defect no assertion criteria provided research

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