ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.570C>T (p.Ile190=)

gnomAD frequency: 0.00001  dbSNP: rs769162698
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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 RCV001397676 SCV001599435 likely benign Cobalamin C disease 2023-12-12 criteria provided, single submitter clinical testing

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