Submissions for variant NM_014795.4(ZEB2):c.1438G>T (p.Ala480Ser)

gnomAD frequency: 0.00026  dbSNP: rs143854197

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000417403	SCV000195485	benign	not specified	2016-03-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000417403	SCV000209393	benign	not specified	2016-04-05	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000553558	SCV000641862	likely benign	Mowat-Wilson syndrome	2025-01-30	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000417403	SCV000708025	benign	not specified	2017-05-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312670	SCV000846862	benign	Inborn genetic diseases	2019-03-13	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Genome-Nilou Lab	RCV000553558	SCV002045690	benign	Mowat-Wilson syndrome	2021-11-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004710552	SCV005255789	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003935255	SCV004752195	likely benign	ZEB2-related disorder	2019-09-24	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).