ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.743C>G (p.Pro248Arg)

dbSNP: rs564280688
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001437496 SCV001640350 likely benign Cobalamin C disease 2023-11-25 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001437496 SCV004236368 uncertain significance Cobalamin C disease 2023-11-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV001437496 SCV002089560 benign Cobalamin C disease 2019-06-21 no assertion criteria provided clinical testing

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