Submissions for variant NM_014795.4(ZEB2):c.2206A>G (p.Met736Val)

gnomAD frequency: 0.00067  dbSNP: rs139191491

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000154152	SCV000203818	benign	not specified	2014-02-24	criteria provided, single submitter	clinical testing
GeneDx	RCV001719953	SCV000209399	benign	not provided	2021-04-19	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000869727	SCV001011178	likely benign	Mowat-Wilson syndrome	2024-12-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000869727	SCV002045676	benign	Mowat-Wilson syndrome	2021-11-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002415652	SCV002725532	benign	Inborn genetic diseases	2019-03-18	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.
PreventionGenetics, part of Exact Sciences	RCV003937439	SCV004747313	likely benign	ZEB2-related disorder	2019-08-12	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).