ClinVar Miner

Submissions for variant NM_172250.3(MMAA):c.441dup (p.Leu148fs)

dbSNP: rs1553958126
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University Children's Hospital, University of Zurich RCV000509018 SCV000606786 pathogenic Methylmalonic aciduria, cblA type criteria provided, single submitter clinical testing

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