Submissions for variant NM_003482.4(KMT2D):c.11202GCA[8] (p.Gln3745dup)

dbSNP: rs398123707

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000659786	SCV000781638	likely benign	Kabuki syndrome 1	2016-11-01	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000992307	SCV001144513	benign	not provided	2018-10-24	criteria provided, single submitter	clinical testing
Invitae	RCV001421548	SCV001624073	likely benign	Kabuki syndrome	2024-01-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000992307	SCV001839310	benign	not provided	2020-11-17	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 30107592, 27302555, 23757202)
Genetic Services Laboratory, University of Chicago	RCV000080113	SCV002068145	benign	not specified	2019-08-08	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000992307	SCV002497594	benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	KMT2D: BS1, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000992307	SCV004564962	likely benign	not provided	2023-06-28	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000080113	SCV000112008	benign	not specified	2012-12-19	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000992307	SCV001742993	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000992307	SCV001929196	likely benign	not provided		no assertion criteria provided	clinical testing