ClinVar Miner

Submissions for variant NM_005957.5(MTHFR):c.1753-37_1753-20dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003636175 SCV004380063 likely benign Homocystinuria due to methylene tetrahydrofolate reductase deficiency 2023-03-01 criteria provided, single submitter clinical testing

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