ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.702C>T (p.His234=) (rs140169964)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000473891 SCV000555861 benign Mowat-Wilson syndrome 2019-12-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000503403 SCV000598021 likely benign not specified 2016-04-01 criteria provided, single submitter clinical testing
GeneDx RCV000503403 SCV000721388 likely benign not specified 2017-07-25 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.
Ambry Genetics RCV000716381 SCV000847221 likely benign History of neurodevelopmental disorder 2016-08-15 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

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