Submissions for variant NM_014795.4(ZEB2):c.2230A>G (p.Ile744Val)

gnomAD frequency: 0.00087  dbSNP: rs112005830

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081664	SCV000113595	benign	not specified	2013-01-10	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000081664	SCV000195491	benign	not specified	2016-03-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000081664	SCV000209401	benign	not specified	2016-03-30	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	RCV000224822	SCV000281239	benign	not provided	2016-03-22	criteria provided, single submitter	clinical testing
Invitae	RCV000147994	SCV000555863	benign	Mowat-Wilson syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000147994	SCV000782427	likely benign	Mowat-Wilson syndrome	2016-11-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311657	SCV000845950	benign	Inborn genetic diseases	2016-07-13	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	RCV000147994	SCV002045674	benign	Mowat-Wilson syndrome	2021-11-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000224822	SCV002585812	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	ZEB2: BS1
PreventionGenetics, part of Exact Sciences	RCV003952520	SCV004778965	benign	ZEB2-related disorder	2019-09-06	criteria provided, single submitter	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).