ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.633C>T (p.Pro211=)

gnomAD frequency: 0.00001  dbSNP: rs577804554
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001410149 SCV001612192 likely benign Cobalamin C disease 2024-02-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001410149 SCV002089552 likely benign Cobalamin C disease 2021-08-19 no assertion criteria provided clinical testing

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