Submissions for variant NM_004456.5(EZH2):c.1852-6C>T

gnomAD frequency: 0.00208  dbSNP: rs78589034

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000145971	SCV000193117	likely benign	not specified	2015-07-02	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000226375	SCV000288559	benign	Weaver syndrome	2025-02-02	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000145971	SCV000310391	likely benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV001573808	SCV000728654	benign	not provided	2020-10-30	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26917488)
Eurofins Ntd Llc (ga)	RCV000145971	SCV000863263	likely benign	not specified	2018-09-06	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001573808	SCV002821858	benign	not provided	2024-12-01	criteria provided, single submitter	clinical testing	EZH2: BP4, BS1, BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573808	SCV001800197	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001573808	SCV001971726	likely benign	not provided		no assertion criteria provided	clinical testing