Submissions for variant NM_014795.4(ZEB2):c.1276T>A (p.Leu426Ile)

gnomAD frequency: 0.00036  dbSNP: rs201881288

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001532408	SCV000209392	benign	not provided	2019-04-24	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000159446	SCV000598020	benign	not specified	2016-03-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000345902	SCV000763937	likely benign	Mowat-Wilson syndrome	2025-01-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313011	SCV000847542	likely benign	Inborn genetic diseases	2021-06-03	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
CeGaT Center for Human Genetics Tuebingen	RCV001532408	SCV001747963	likely benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	ZEB2: PP2, BS2
Genome-Nilou Lab	RCV000345902	SCV002045695	benign	Mowat-Wilson syndrome	2021-11-07	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001532408	SCV001928442	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001532408	SCV001969351	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004752765	SCV005344917	likely benign	ZEB2-related disorder	2024-04-24	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).