Submissions for variant NM_014795.4(ZEB2):c.489C>T (p.Ile163=)

gnomAD frequency: 0.00277  dbSNP: rs138859323

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081671	SCV000113602	benign	not specified	2013-09-13	criteria provided, single submitter	clinical testing
GeneDx	RCV000081671	SCV000169860	benign	not specified	2012-03-09	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago	RCV000081671	SCV000195500	benign	not specified	2015-09-30	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003891565	SCV000312220	benign	ZEB2-related condition	2023-10-25	criteria provided, single submitter	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).
Invitae	RCV000353189	SCV000555854	benign	Mowat-Wilson syndrome	2024-01-25	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000081671	SCV000616302	benign	not specified	2017-06-26	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311659	SCV000846720	likely benign	Inborn genetic diseases	2016-04-19	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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	RCV001310434	SCV001500227	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	ZEB2: BP4, BP7, BS1
Genome-Nilou Lab	RCV000353189	SCV002045707	benign	Mowat-Wilson syndrome	2021-11-07	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000353189	SCV000734144	benign	Mowat-Wilson syndrome		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001310434	SCV001967793	likely benign	not provided		no assertion criteria provided	clinical testing