Submissions for variant NM_014795.4(ZEB2):c.2084G>A (p.Arg695Gln)

gnomAD frequency: 0.00012  dbSNP: rs147693839

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000724277	SCV000209429	benign	not provided	2020-10-19	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000724277	SCV000232733	uncertain significance	not provided	2014-12-19	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000515226	SCV000611536	uncertain significance	Mowat-Wilson syndrome	2017-05-23	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000515226	SCV000763927	benign	Mowat-Wilson syndrome	2023-12-28	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000515226	SCV002045594	likely benign	Mowat-Wilson syndrome	2021-11-07	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001818349	SCV002072026	uncertain significance	not specified	2017-09-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002415697	SCV002727105	likely benign	Inborn genetic diseases	2017-12-19	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.
CeGaT Center for Human Genetics Tuebingen	RCV000724277	SCV004033762	likely benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	ZEB2: BS2