ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.1329_1332del (p.Pro444fs)

dbSNP: rs587783689
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146167 SCV000193392 pathogenic Kabuki syndrome 1 2013-02-08 criteria provided, single submitter clinical testing
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine RCV000146167 SCV000583537 likely pathogenic Kabuki syndrome 1 criteria provided, single submitter research

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