ClinVar Miner

Submissions for variant NM_003482.3(KMT2D):c.13045C>G (p.Pro4349Ala) (rs181733689)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc RCV000146166 SCV000781661 likely benign Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514859 SCV000610699 likely benign not provided 2017-04-27 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000080128 SCV000112023 benign not specified 2012-09-19 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000146166 SCV000193391 uncertain significance Kabuki syndrome 1 2014-02-19 criteria provided, single submitter clinical testing
ITMI RCV000080128 SCV000085617 not provided not specified 2013-09-19 no assertion provided reference population

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