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
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 RCV000080125 SCV000193387 benign not specified 2019-02-26 criteria provided, single submitter clinical testing
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.
PreventionGenetics,PreventionGenetics RCV000080125 SCV000309601 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000350866 SCV001012436 likely benign Kabuki syndrome 2019-12-31 criteria provided, single submitter clinical testing
ITMI RCV000080125 SCV000085623 not provided not specified 2013-09-19 no assertion provided reference population

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