ClinVar Miner

Submissions for variant NM_003482.3(KMT2D):c.5217C>T (p.Gly1739=) (rs111924728)

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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 RCV000080189 SCV000112084 benign not specified 2015-07-06 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000080189 SCV000193453 benign not specified 2013-08-22 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000286509 SCV000379264 likely benign Kabuki syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000286509 SCV000759957 benign Kabuki syndrome 2017-11-08 criteria provided, single submitter clinical testing
PreventionGenetics RCV000080189 SCV000309623 benign not specified criteria provided, single submitter clinical testing

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