Submissions for variant NM_014795.4(ZEB2):c.225C>T (p.Ser75=)

gnomAD frequency: 0.00003  dbSNP: rs754754722

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000422496	SCV000520219	likely benign	not specified	2015-10-22	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.
Ambry Genetics	RCV002313060	SCV000848895	likely benign	Inborn genetic diseases	2017-01-26	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.
Invitae	RCV000950969	SCV001097314	likely benign	Mowat-Wilson syndrome	2023-07-28	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000422496	SCV002067025	likely benign	not specified	2017-09-28	criteria provided, single submitter	clinical testing