ClinVar Miner

Submissions for variant NM_004408.4(DNM1):c.1347C>A (p.Tyr449Ter)

dbSNP: rs2131226916
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV001843725 SCV002102857 uncertain significance Developmental disorder 2020-12-16 criteria provided, single submitter clinical testing

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