ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.831T>C (p.Pro277=)

gnomAD frequency: 0.00003  dbSNP: rs1322086708
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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 RCV002156000 SCV002465553 likely benign Cobalamin C disease 2023-03-07 criteria provided, single submitter clinical testing

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