ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.904C>T (p.Arg302Ter) (rs587784571)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000148007 SCV000195505 pathogenic Mowat-Wilson syndrome 2013-02-08 criteria provided, single submitter clinical testing
GeneDx RCV000167554 SCV000209418 pathogenic not provided 2017-06-15 criteria provided, single submitter clinical testing The R302X variant in the ZEB2 gene has been reported previously in a few unrelated individuals with clinical features of Mowat-Wilson syndrome (Ishihara et al., 2004; Saunders et al., 2009; Jiang et al., 2017). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R302X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret R302X as a pathogenic variant.
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000167554 SCV000218433 pathogenic not provided 2015-01-30 no assertion criteria provided clinical testing
Molecular Genetics Laboratory,Children's Mercy Hospital and Clinics RCV000148007 SCV000221244 pathogenic Mowat-Wilson syndrome 2015-03-02 no assertion criteria provided clinical testing

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