Submissions for variant NM_003482.4(KMT2D):c.8774C>T (p.Ala2925Val)

gnomAD frequency: 0.00223  dbSNP: rs199547661

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000080223	SCV000112118	benign	not specified	2014-06-17	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000080223	SCV000193485	likely benign	not specified	2017-06-16	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000080223	SCV000309635	benign	not specified		criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000080223	SCV000613947	benign	not specified	2017-01-25	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000659769	SCV000781621	uncertain significance	Kabuki syndrome 1	2016-11-01	criteria provided, single submitter	clinical testing
Invitae	RCV000264206	SCV001012525	likely benign	Kabuki syndrome	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001529421	SCV001865788	benign	not provided	2019-05-10	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 30459467, 30107592, 28389907, 29627316, 28440294)
CeGaT Center for Human Genetics Tuebingen	RCV001529421	SCV004130752	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	KMT2D: BS1
ITMI	RCV000080223	SCV000085606	not provided	not specified	2013-09-19	no assertion provided	reference population
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529421	SCV001742852	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001529421	SCV001967988	likely benign	not provided		no assertion criteria provided	clinical testing