Submissions for variant NM_014795.4(ZEB2):c.1480C>T (p.Pro494Ser)

gnomAD frequency: 0.00206  dbSNP: rs144952836

Total submissions: 17

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081655	SCV000113586	benign	not specified	2014-09-09	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000081655	SCV000195486	benign	not specified	2017-10-13	criteria provided, single submitter	clinical testing
GeneDx	RCV000081655	SCV000209394	benign	not specified	2018-03-08	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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000167557	SCV000511722	benign	not provided	2017-01-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000159447	SCV000555865	likely benign	Mowat-Wilson syndrome	2024-01-30	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000159447	SCV000782425	likely benign	Mowat-Wilson syndrome	2016-11-01	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000167557	SCV000844914	benign	not provided	2016-07-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313792	SCV000847375	benign	Inborn genetic diseases	2016-06-13	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.
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV000159447	SCV001370192	likely benign	Mowat-Wilson syndrome	2019-03-06	criteria provided, single submitter	clinical testing	This variant was classified as: Likely benign. The following ACMG criteria were applied in classifying this variant: BP1,BP6.
Genome-Nilou Lab	RCV000159447	SCV002045689	benign	Mowat-Wilson syndrome	2021-11-07	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000159447	SCV002799055	likely benign	Mowat-Wilson syndrome	2021-07-06	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000167557	SCV004011195	likely benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	ZEB2: BP4, BS1
Breakthrough Genomics, Breakthrough Genomics	RCV000167557	SCV005255788	likely benign	not provided		criteria provided, single submitter	not provided
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000167557	SCV000218437	likely benign	not provided	2015-01-30	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000167557	SCV001927915	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000167557	SCV001966190	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003925072	SCV004743182	likely benign	ZEB2-related disorder	2019-12-22	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).