ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.3067+6A>T (rs143450927)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224615 SCV000281233 benign not provided 2014-12-09 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000081667 SCV000218436 benign not specified 2015-01-30 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081667 SCV000113598 benign not specified 2013-12-17 criteria provided, single submitter clinical testing
GeneDx RCV000081667 SCV000169880 benign not specified 2012-05-11 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 RCV000147999 SCV000195496 likely benign Mowat-Wilson syndrome 2013-04-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000147999 SCV000416635 benign Mowat-Wilson syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000147999 SCV000289999 benign Mowat-Wilson syndrome 2017-08-22 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,Children's Mercy Hospital and Clinics RCV000081667 SCV000221259 benign not specified 2015-03-02 criteria provided, single submitter clinical testing This variant was interpreted as benign based on ACMG evidence categories BS1 BS2.

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