Submissions for variant NM_003482.4(KMT2D):c.6629C>T (p.Pro2210Leu)

gnomAD frequency: 0.00260  dbSNP: rs201190869

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000121397	SCV000112098	likely benign	not specified	2015-02-09	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000121397	SCV000309626	likely benign	not specified		criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514938	SCV000610177	benign	not provided	2017-09-25	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000659738	SCV000781587	likely benign	Kabuki syndrome 1	2016-11-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000304939	SCV001012928	benign	Kabuki syndrome	2024-01-24	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000659738	SCV001472880	likely benign	Kabuki syndrome 1	2019-08-05	criteria provided, single submitter	clinical testing
GeneDx	RCV000514938	SCV001937460	benign	not provided	2020-06-18	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 29569031, 24728327)
Genetic Services Laboratory, University of Chicago	RCV000121397	SCV002068167	benign	not specified	2022-01-06	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000514938	SCV002545033	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	KMT2D: BP4, BS1
ITMI	RCV000121397	SCV000085582	not provided	not specified	2013-09-19	no assertion provided	reference population