Submissions for variant NM_014795.4(ZEB2):c.332-6C>T

gnomAD frequency: 0.00004  dbSNP: rs730881186

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000159464	SCV000209413	benign	not specified	2014-10-24	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.
Genetic Services Laboratory, University of Chicago	RCV000159464	SCV000598024	likely benign	not specified	2017-07-10	criteria provided, single submitter	clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV000768368	SCV000899098	uncertain significance	Mowat-Wilson syndrome	2021-03-30	criteria provided, single submitter	clinical testing	ZEB2 NM_014795 exon 4 c.332-6C>T: This variant has not been reported in the literature but is present in 6/126286 European alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs730881186). This variant is present in ClinVar (Variation ID:181725). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is an intronic variant with no predicted change in the amino acid sequence but may have an unknown effect on splicing. Further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000768368	SCV001682323	likely benign	Mowat-Wilson syndrome	2023-08-27	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000768368	SCV002045609	likely benign	Mowat-Wilson syndrome	2021-11-07	criteria provided, single submitter	clinical testing