ClinVar Miner

Submissions for variant NM_172250.3(MMAA):c.1034del (p.Phe345fs)

dbSNP: rs398124552
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082687 SCV000114731 pathogenic not provided 2013-01-21 criteria provided, single submitter clinical testing
University Children's Hospital, University of Zurich RCV000509023 SCV000606798 pathogenic Methylmalonic aciduria, cblA type criteria provided, single submitter clinical testing

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