ClinVar Miner

Submissions for variant NM_003482.3(KMT2D):c.7670C>T (p.Pro2557Leu) (rs189888707)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000080213 SCV000112108 benign not specified 2015-12-22 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000080213 SCV000193474 benign not specified 2014-05-21 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000080213 SCV000309631 benign not specified criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000425546 SCV000510696 benign not provided 2016-09-14 criteria provided, single submitter clinical testing
Invitae RCV000351079 SCV000636672 benign Kabuki syndrome 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000080213 SCV000728620 benign not specified 2017-06-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001001867 SCV001159584 benign Kabuki syndrome 1 2019-02-15 criteria provided, single submitter clinical testing
ITMI RCV000080213 SCV000085590 not provided not specified 2013-09-19 no assertion provided reference population

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