ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.573C>T (p.Ala191=)

dbSNP: rs750572915
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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 RCV002202221 SCV002353263 likely benign Cobalamin C disease 2023-04-28 criteria provided, single submitter clinical testing

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