ClinVar Miner

Submissions for variant NM_003482.3(KMT2D):c.8091C>T (p.Arg2697=) (rs116686402)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000080220 SCV000112115 benign not specified 2014-06-12 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000080220 SCV000193481 benign not specified 2013-08-22 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000279415 SCV000379218 likely benign Kabuki syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000279415 SCV000759960 benign Kabuki syndrome 2017-11-08 criteria provided, single submitter clinical testing
PreventionGenetics RCV000080220 SCV000309632 benign not specified criteria provided, single submitter clinical testing

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