Submissions for variant NM_014795.4(ZEB2):c.807+3G>C

gnomAD frequency: 0.00194  dbSNP: rs144925893

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081676	SCV000113607	benign	not specified	2013-10-25	criteria provided, single submitter	clinical testing
GeneDx	RCV000081676	SCV000169863	benign	not specified	2013-03-28	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000986821	SCV000555864	benign	Mowat-Wilson syndrome	2025-01-24	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514375	SCV000610566	benign	not provided	2017-05-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313794	SCV000848151	benign	Inborn genetic diseases	2016-11-03	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.
Mendelics	RCV000986821	SCV001135957	likely benign	Mowat-Wilson syndrome	2019-05-28	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000986821	SCV002045700	benign	Mowat-Wilson syndrome	2021-11-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000514375	SCV004151265	benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	ZEB2: BP4, BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV004752744	SCV005354726	benign	ZEB2-related disorder	2024-05-15	no assertion criteria provided	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).