ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.816C>A (p.Pro272=)

dbSNP: rs754568180
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001450397 SCV001654004 likely benign Cobalamin C disease 2023-11-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV001450397 SCV002089563 likely benign Cobalamin C disease 2021-08-02 no assertion criteria provided clinical testing

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