ClinVar Miner

Submissions for variant NM_001291415.2(KDM6A):c.3991C>T (p.Arg1331Ter)

dbSNP: rs863224886
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UCLA Clinical Genomics Center, UCLA RCV000197668 SCV000255397 likely pathogenic Kabuki syndrome 2 2012-11-13 criteria provided, single submitter clinical testing
Centogene AG - the Rare Disease Company RCV000197668 SCV002059422 pathogenic Kabuki syndrome 2 2018-12-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002262794 SCV002546165 pathogenic not provided 2022-06-01 criteria provided, single submitter clinical testing KDM6A: PS2:Very Strong, PVS1, PM2
Autoinflammatory diseases unit, CHU de Montpellier RCV000197668 SCV001438258 pathogenic Kabuki syndrome 2 2016-06-10 no assertion criteria provided clinical testing

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