ClinVar Miner

Submissions for variant NM_003482.3(KMT2D):c.12913G>A (p.Val4305Ile) (rs199895011)

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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 RCV000224717 SCV000281095 likely benign not provided 2016-01-18 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000080125 SCV000112020 benign not specified 2012-09-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000146162 SCV000193387 uncertain significance Kabuki syndrome 1 2014-02-20 criteria provided, single submitter clinical testing
ITMI RCV000080125 SCV000085623 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000350866 SCV000379179 likely benign Kabuki syndrome 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000080125 SCV000309601 likely benign not specified criteria provided, single submitter clinical testing

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