Submissions for variant NM_001197104.2(KMT2A):c.6572G>A (p.Arg2191Gln)

gnomAD frequency: 0.00109  dbSNP: rs141727765

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000146142	SCV000193360	likely benign	not specified	2014-01-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000906216	SCV001050839	likely benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV000906216	SCV001897031	benign	not provided	2019-07-24	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002505127	SCV002804844	likely benign	Wiedemann-Steiner syndrome	2022-01-06	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000906216	SCV004129396	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	KMT2A: BP4, BS1
Breakthrough Genomics, Breakthrough Genomics	RCV000906216	SCV005212761	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003935248	SCV004755843	likely benign	KMT2A-related disorder	2019-05-30	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).