Submissions for variant NM_014795.4(ZEB2):c.2255C>T (p.Thr752Met)

gnomAD frequency: 0.00003  dbSNP: rs143438888

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081665	SCV000113596	benign	not specified	2012-10-12	criteria provided, single submitter	clinical testing
GeneDx	RCV000514666	SCV000209403	likely benign	not provided	2019-03-04	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514666	SCV000610194	likely benign	not provided	2017-03-20	criteria provided, single submitter	clinical testing
Invitae	RCV001079729	SCV000833365	likely benign	Mowat-Wilson syndrome	2024-01-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001079729	SCV002045672	benign	Mowat-Wilson syndrome	2021-11-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002444550	SCV002734164	likely benign	Inborn genetic diseases	2017-03-03	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Fulgent Genetics, Fulgent Genetics	RCV001079729	SCV002806109	likely benign	Mowat-Wilson syndrome	2022-04-04	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003974980	SCV004792185	likely benign	ZEB2-related condition	2021-11-12	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).