ClinVar Miner

Submissions for variant NM_003482.3(KMT2D):c.6807C>T (p.Ser2269=) (rs73302197)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153415 SCV000202916 benign not specified 2014-05-02 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000146226 SCV000193466 uncertain significance Kabuki syndrome 1 2013-03-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000343763 SCV000379242 likely benign Kabuki syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000343763 SCV000636667 benign Kabuki syndrome 2017-11-18 criteria provided, single submitter clinical testing

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