ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.189C>T (p.Leu63=)

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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 RCV002876622 SCV003238687 likely benign Cobalamin C disease 2022-09-22 criteria provided, single submitter clinical testing

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