ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.1276T>A (p.Leu426Ile) (rs201881288)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000159446 SCV000209392 likely benign not specified 2018-01-12 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.
Illumina Clinical Services Laboratory,Illumina RCV000345902 SCV000416644 uncertain significance Mowat-Wilson syndrome 2016-06-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000159446 SCV000598020 benign not specified 2016-03-14 criteria provided, single submitter clinical testing
Invitae RCV000345902 SCV000763937 likely benign Mowat-Wilson syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716699 SCV000847542 likely benign History of neurodevelopmental disorder 2016-08-23 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification;In silico models in agreement (benign)

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