Submissions for variant NM_014795.4(ZEB2):c.2141C>T (p.Pro714Leu)

gnomAD frequency: 0.00281  dbSNP: rs112581563

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081661	SCV000113592	benign	not specified	2012-08-03	criteria provided, single submitter	clinical testing
GeneDx	RCV000081661	SCV000169871	benign	not specified	2013-09-16	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	RCV000081661	SCV000195490	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000429313	SCV000511120	benign	not provided	2017-01-27	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000387354	SCV000555853	benign	Mowat-Wilson syndrome	2025-01-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002316258	SCV000851380	benign	Inborn genetic diseases	2022-02-25	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	RCV000387354	SCV002045680	benign	Mowat-Wilson syndrome	2021-11-07	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000387354	SCV002807453	likely benign	Mowat-Wilson syndrome	2021-07-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000429313	SCV004011194	likely benign	not provided	2024-10-01	criteria provided, single submitter	clinical testing	ZEB2: BP4, BS1
Breakthrough Genomics, Breakthrough Genomics	RCV000429313	SCV005255787	likely benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000429313	SCV001977974	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000429313	SCV001980630	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004752742	SCV005352770	benign	ZEB2-related disorder	2024-06-03	no assertion criteria provided	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).