Submissions for variant NM_003482.4(KMT2D):c.9726C>T (p.Ala3242=)

gnomAD frequency: 0.00124  dbSNP: rs183688784

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000146244	SCV000193488	benign	not specified	2018-01-02	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000146244	SCV000338620	likely benign	not specified	2016-02-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000364030	SCV001017329	benign	Kabuki syndrome	2025-01-22	criteria provided, single submitter	clinical testing
GeneDx	RCV001705948	SCV001843969	benign	not provided	2019-07-16	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001705948	SCV004130742	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	KMT2D: BP4, BP7, BS1
Breakthrough Genomics, Breakthrough Genomics	RCV001705948	SCV005213059	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV004758650	SCV005358644	likely benign	KMT2D-related disorder	2024-03-21	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).