ClinVar Miner

Submissions for variant NM_001348716.2(KDM6B):c.4431G>A (p.Trp1477Ter)

dbSNP: rs2151379742
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001827593 SCV002095590 pathogenic Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 2022-02-11 criteria provided, single submitter clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001827593 SCV002570469 likely pathogenic Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 2022-09-09 no assertion criteria provided research

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