ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.642C>A (p.Arg214=)

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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 RCV002578915 SCV003491474 likely benign Cobalamin C disease 2024-09-28 criteria provided, single submitter clinical testing

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