Submissions for variant NM_003482.4(KMT2D):c.6354C>T (p.Pro2118=)

gnomAD frequency: 0.00053  dbSNP: rs377392943

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000723517	SCV000112094	uncertain significance	not provided	2016-06-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000723517	SCV000534562	benign	not provided	2020-07-20	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000263883	SCV001014837	likely benign	Kabuki syndrome	2025-01-12	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000723517	SCV004130783	benign	not provided	2022-07-01	criteria provided, single submitter	clinical testing	KMT2D: BS1, BS2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000723517	SCV001953708	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000723517	SCV001964470	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004542770	SCV004783967	benign	KMT2D-related disorder	2019-08-27	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).