ClinVar Miner

Submissions for variant NM_005957.5(MTHFR):c.1832A>G (p.Tyr611Cys)

dbSNP: rs756615138
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000978126 SCV001126050 likely benign Homocystinuria due to methylene tetrahydrofolate reductase deficiency 2024-01-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV000978126 SCV001459040 likely benign Homocystinuria due to methylene tetrahydrofolate reductase deficiency 2020-06-18 no assertion criteria provided clinical testing

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