ClinVar Miner

Submissions for variant NM_001348716.2(KDM6B):c.3046dup (p.Arg1016fs)

dbSNP: rs2151378140
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV002272591 SCV002556406 pathogenic Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 2022-02-15 criteria provided, single submitter clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV002272591 SCV002570473 likely pathogenic Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 2022-09-09 no assertion criteria provided research

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