ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.415_416delinsTA (p.Pro139Ter)

dbSNP: rs1643667928
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University RCV001257404 SCV001433960 likely pathogenic Cobalamin C disease 2020-01-01 no assertion criteria provided clinical testing

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