ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.1480C>T (p.Pro494Ser) (rs144952836)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000716534 SCV000847375 benign History of neurodevelopmental disorder 2016-06-13 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
Athena Diagnostics Inc RCV000167557 SCV000844914 benign not provided 2016-07-13 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc RCV000159447 SCV000782425 likely benign Mowat-Wilson syndrome 2016-11-01 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000167557 SCV000511722 benign not provided 2017-01-03 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000167557 SCV000218437 likely benign not provided 2015-01-30 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081655 SCV000113586 benign not specified 2014-09-09 criteria provided, single submitter clinical testing
GeneDx RCV000081655 SCV000209394 benign not specified 2018-03-08 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 RCV000081655 SCV000195486 likely benign not specified 2014-05-27 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000159447 SCV000416642 likely benign Mowat-Wilson syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000159447 SCV000555865 likely benign Mowat-Wilson syndrome 2017-11-27 criteria provided, single submitter clinical testing

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