ClinVar Miner

Submissions for variant NM_003482.3(KMT2D):c.8743C>T (p.Arg2915Ter) (rs587783729)

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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 RCV000146240 SCV000193484 pathogenic Kabuki syndrome 1 2013-02-08 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000146240 SCV000781620 likely pathogenic Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Shaikh Laboratory, University of Colorado RCV000146240 SCV000207393 likely pathogenic Kabuki syndrome 1 2015-02-04 no assertion criteria provided research

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