ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.544T>C (p.Cys182Arg)

dbSNP: rs955468279
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666281 SCV000790545 uncertain significance Cobalamin C disease 2017-03-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000666281 SCV002787299 uncertain significance Cobalamin C disease 2021-07-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000666281 SCV004178191 uncertain significance Cobalamin C disease 2023-04-11 criteria provided, single submitter clinical testing

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