ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.2141C>T (p.Pro714Leu) (rs112581563)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000720503 SCV000851380 likely benign History of neurodevelopmental disorder 2017-12-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Subpopulation frequency in support of benign classification
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000429313 SCV000511120 benign not provided 2017-01-27 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081661 SCV000113592 benign not specified 2012-08-03 criteria provided, single submitter clinical testing
GeneDx RCV000081661 SCV000169871 benign not specified 2013-09-16 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 RCV000081661 SCV000195490 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000387354 SCV000416639 likely benign Mowat-Wilson syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000387354 SCV000555853 benign Mowat-Wilson syndrome 2017-12-28 criteria provided, single submitter clinical testing

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