ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.1542G>A (p.Pro514=)

dbSNP: rs141674976
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147992 SCV000195487 likely benign not specified 2014-10-02 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000723420 SCV000330991 uncertain significance not provided 2016-09-23 criteria provided, single submitter clinical testing
GeneDx RCV000147992 SCV000722299 likely benign not specified 2017-08-21 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001296602 SCV001485572 likely benign Mowat-Wilson syndrome 2025-01-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001296602 SCV002045599 likely benign Mowat-Wilson syndrome 2021-11-07 criteria provided, single submitter clinical testing

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