ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.2230A>G (p.Ile744Val) (rs112005830)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081664 SCV000113595 benign not specified 2013-01-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081664 SCV000195491 benign not specified 2016-03-30 criteria provided, single submitter clinical testing
GeneDx RCV000081664 SCV000209401 benign not specified 2016-03-30 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.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224822 SCV000281239 benign not provided 2016-03-22 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000147994 SCV000416637 likely benign Mowat-Wilson syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000224822 SCV000555863 benign not provided 2019-01-30 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc RCV000147994 SCV000782427 likely benign Mowat-Wilson syndrome 2016-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715124 SCV000845950 benign History of neurodevelopmental disorder 2016-07-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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