ClinVar Miner

Submissions for variant NM_003482.3(KMT2D):c.15061C>T (p.Arg5021Ter) (rs587783695)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000146174 SCV000193405 pathogenic Kabuki syndrome 1 2013-08-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000790679 SCV000230778 pathogenic not provided 2014-01-02 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000146174 SCV000781680 likely pathogenic Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Mendelics RCV000146174 SCV001138714 pathogenic Kabuki syndrome 1 2019-05-28 criteria provided, single submitter clinical testing

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