Submissions for variant NM_014727.3(KMT2B):c.1096G>A (p.Glu366Lys)

gnomAD frequency: 0.00442  dbSNP: rs186777199

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000971079	SCV001118695	benign	not provided	2025-02-02	criteria provided, single submitter	clinical testing
GeneDx	RCV000971079	SCV001778721	likely benign	not provided	2024-06-11	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Ambry Genetics	RCV002548354	SCV003541655	likely benign	Inborn genetic diseases	2021-08-17	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen	RCV000971079	SCV004145441	benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	KMT2B: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000971079	SCV005206989	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV004553484	SCV004794781	benign	KMT2B-related disorder	2019-03-25	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).