ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.1161A>G (p.Leu387=) (rs146673563)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081651 SCV000113582 benign not specified 2012-08-09 criteria provided, single submitter clinical testing
GeneDx RCV000081651 SCV000169865 benign not specified 2013-12-01 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 RCV000081651 SCV000195483 likely benign not specified 2015-01-23 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000393530 SCV000416645 likely benign Mowat-Wilson syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000714220 SCV000555858 benign not provided 2019-02-26 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000714220 SCV000844913 benign not provided 2017-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718879 SCV000849743 likely benign History of neurodevelopmental disorder 2016-04-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign

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