ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.1592A>T (p.Glu531Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003156691 SCV003845902 uncertain significance not provided 2022-09-27 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV003611632 SCV004491371 likely benign Mowat-Wilson syndrome 2023-08-04 criteria provided, single submitter clinical testing

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