ClinVar Miner

Submissions for variant NM_003482.3(KMT2D):c.15671G>A (p.Arg5224His) (rs3782356)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000146178 SCV000193409 uncertain significance Kabuki syndrome 1 2013-03-04 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514629 SCV000609547 benign not provided 2017-08-02 criteria provided, single submitter clinical testing
Invitae RCV000285985 SCV001005809 benign Kabuki syndrome 2019-12-31 criteria provided, single submitter clinical testing
ITMI RCV000121442 SCV000085636 not provided not specified 2013-09-19 no assertion provided reference population

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