ClinVar Miner

Submissions for variant NM_172250.3(MMAA):c.1196_1197delinsTT (p.Gly399Val)

dbSNP: rs1553959152
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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 RCV000509032 SCV000606799 pathogenic Methylmalonic aciduria, cblA type criteria provided, single submitter clinical testing

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