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

gnomAD frequency: 0.00026  dbSNP: rs143854197

Total submissions: 7

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.
Invitae	RCV000553558	SCV000641862	likely benign	Mowat-Wilson syndrome	2024-01-28	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: 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
PreventionGenetics, part of Exact Sciences	RCV003935255	SCV004752195	likely benign	ZEB2-related condition	2019-09-24	criteria provided, single submitter	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).