Submissions for variant NM_003482.4(KMT2D):c.10233C>T (p.Asp3411=)

gnomAD frequency: 0.00100  dbSNP: rs148688181

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000177846	SCV000229790	likely benign	not specified	2015-03-23	criteria provided, single submitter	clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000177846	SCV000297142	likely benign	not specified	2015-11-10	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000177846	SCV000309594	likely benign	not specified		criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000659777	SCV000781629	uncertain significance	Kabuki syndrome 1	2016-11-01	criteria provided, single submitter	clinical testing
Invitae	RCV000338854	SCV001014013	benign	Kabuki syndrome	2024-01-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000659777	SCV001472414	likely benign	Kabuki syndrome 1	2019-08-22	criteria provided, single submitter	clinical testing
GeneDx	RCV001711466	SCV001940586	benign	not provided	2019-11-21	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000177846	SCV002066951	benign	not specified	2019-03-20	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001711466	SCV004130739	likely benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	KMT2D: BP4, BP7, BS1