Submissions for variant NM_003482.4(KMT2D):c.2798-7del

dbSNP: rs112620957

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000174076	SCV000225314	benign	not specified	2014-09-10	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000174076	SCV000247763	benign	not specified	2017-06-16	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000359921	SCV000379294	likely benign	Kabuki syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000359921	SCV001021441	benign	Kabuki syndrome	2024-01-19	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001285018	SCV001471238	benign	Kabuki syndrome 1	2020-08-27	criteria provided, single submitter	clinical testing
GeneDx	RCV001570655	SCV001794987	likely benign	not provided	2021-05-11	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001570655	SCV001800310	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000174076	SCV001966160	benign	not specified		no assertion criteria provided	clinical testing