ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.771C>G (p.Pro257=)

gnomAD frequency: 0.00001  dbSNP: rs376037114
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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 RCV001492903 SCV001697523 likely benign Cobalamin C disease 2023-02-27 criteria provided, single submitter clinical testing

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