ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.270dup (p.Arg91Ter)

dbSNP: rs1553162786
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Human Genetics, Children's Hospital of Philadelphia RCV000477768 SCV000536711 pathogenic Cobalamin C disease 2016-06-08 no assertion criteria provided research

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