Submissions for variant NM_170606.3(KMT2C):c.7491C>T (p.Arg2497=)

gnomAD frequency: 0.00662  dbSNP: rs117187677

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000948337	SCV001094540	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000948337	SCV001746945	likely benign	not provided	2025-02-01	criteria provided, single submitter	clinical testing	KMT2C: BP4, BP7, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000948337	SCV005219877	likely benign	not provided		criteria provided, single submitter	not provided
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001724193	SCV001955805	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000948337	SCV001966963	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004533631	SCV004743171	benign	KMT2C-related disorder	2022-01-19	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).