ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.12956_12957del (p.Arg4319fs)

dbSNP: rs587783687
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146163 SCV000193388 pathogenic Kabuki syndrome 1 2013-02-08 criteria provided, single submitter clinical testing

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