Submissions for variant NM_014727.3(KMT2B):c.2268_2279dup (p.Gln759_Pro762dup)

gnomAD frequency: 0.00140  dbSNP: rs564202766

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV000996841	SCV001151782	uncertain significance	not provided	2023-10-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000996841	SCV001912614	benign	not provided	2020-10-19	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000996841	SCV002483452	likely benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000996841	SCV001743447	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000996841	SCV001964002	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004553538	SCV004719943	likely benign	KMT2B-related disorder	2019-08-13	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).