ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.8053C>T (p.Arg2685Ter)

dbSNP: rs587783727
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146236 SCV000193479 pathogenic Kabuki syndrome 1 2013-08-22 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000146236 SCV000781610 likely pathogenic Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Autoinflammatory diseases unit, CHU de Montpellier RCV000146236 SCV001438183 pathogenic Kabuki syndrome 1 2015-11-12 no assertion criteria provided clinical testing

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