ClinVar Miner

Submissions for variant NM_001348716.2(KDM6B):c.1416_1417del (p.Cys473fs)

dbSNP: rs2078587931
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Total submissions: 4
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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 RCV001268379 SCV001447269 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001268379 SCV005330495 pathogenic not provided 2024-08-01 criteria provided, single submitter clinical testing KDM6B: PVS1, PM2, PS2:Moderate, PS4:Moderate
Juno Genomics, Hangzhou Juno Genomics, Inc RCV003150418 SCV005418673 pathogenic Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities criteria provided, single submitter clinical testing PM2_Supporting+PS2_Supporting+PVS1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV003150418 SCV002570445 likely pathogenic Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 2022-09-09 no assertion criteria provided research

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