Submissions for variant NM_014795.4(ZEB2):c.2601G>A (p.Lys867=)

gnomAD frequency: 0.00029  dbSNP: rs139369265

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000126371	SCV000169875	benign	not specified	2014-03-12	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.
Eurofins Ntd Llc (ga)	RCV000126371	SCV000857582	likely benign	not specified	2017-11-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001520610	SCV001729750	benign	Mowat-Wilson syndrome	2024-12-06	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001520610	SCV002045666	benign	Mowat-Wilson syndrome	2021-11-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002426683	SCV002740674	likely benign	Inborn genetic diseases	2017-06-14	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.