Submissions for variant NM_014795.4(ZEB2):c.1306A>G (p.Met436Val)

gnomAD frequency: 0.00052  dbSNP: rs145812868

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081652	SCV000113583	likely benign	not specified	2017-11-30	criteria provided, single submitter	clinical testing
GeneDx	RCV001704004	SCV000209422	benign	not provided	2020-02-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313791	SCV000849199	likely benign	Inborn genetic diseases	2022-12-19	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.
Invitae	RCV000868034	SCV001009319	likely benign	Mowat-Wilson syndrome	2024-01-27	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000868034	SCV002045694	benign	Mowat-Wilson syndrome	2021-11-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001704004	SCV004151263	benign	not provided	2022-04-01	criteria provided, single submitter	clinical testing	ZEB2: BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003925071	SCV004745755	likely benign	ZEB2-related disorder	2022-05-25	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).