ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.11202_11204GCA[8] (p.Gln3745dup) (rs398123707)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000659786 SCV000781638 likely benign Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000992307 SCV001144513 benign not provided 2018-10-24 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000080113 SCV000112008 benign not specified 2012-12-19 no assertion criteria provided clinical testing

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