ClinVar Miner

Submissions for variant NM_003482.3(KMT2D):c.2074C>A (p.Pro692Thr) (rs202076833)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224720 SCV000281048 benign not provided 2015-12-21 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000121371 SCV000336276 benign not specified 2015-10-13 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000121371 SCV000193423 likely benign not specified 2013-02-08 criteria provided, single submitter clinical testing
ITMI RCV000121371 SCV000085553 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000345406 SCV000379305 likely benign Kabuki syndrome 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000121371 SCV000309612 likely benign not specified criteria provided, single submitter clinical testing

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