ClinVar Miner

Submissions for variant NM_003482.3(KMT2D):c.15088C>T (p.Arg5030Cys) (rs1555185875)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc RCV000659821 SCV000781681 uncertain significance Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000513947 SCV000610680 pathogenic not provided 2017-07-19 criteria provided, single submitter clinical testing

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