Submissions for variant NM_003482.4(KMT2D):c.15978T>G (p.Leu5326=)

gnomAD frequency: 0.02513  dbSNP: rs55776396

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000080152	SCV000112047	benign	not specified	2012-07-06	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000080152	SCV000193413	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000080152	SCV000309608	benign	not specified		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000365512	SCV000636649	benign	Kabuki syndrome	2025-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV000080152	SCV000728622	benign	not specified	2017-11-20	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.
Breakthrough Genomics, Breakthrough Genomics	RCV001795097	SCV005235726	benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001795097	SCV002035777	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000080152	SCV002037240	benign	not specified		no assertion criteria provided	clinical testing