Submissions for variant NM_003482.4(KMT2D):c.7670C>T (p.Pro2557Leu)

gnomAD frequency: 0.01025  dbSNP: rs189888707

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	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, part of Exact Sciences	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
Labcorp Genetics (formerly Invitae), Labcorp	RCV000351079	SCV000636672	benign	Kabuki syndrome	2025-02-03	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	RCV000425546	SCV001159584	benign	not provided	2024-10-08	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000425546	SCV005235753	benign	not provided		criteria provided, single submitter	not provided
ITMI	RCV000080213	SCV000085590	not provided	not specified	2013-09-19	no assertion provided	reference population
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000080213	SCV001959995	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000080213	SCV001973575	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000425546	SCV002036783	likely benign	not provided		no assertion criteria provided	clinical testing