ClinVar Miner

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

dbSNP: rs140169964
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000473891 SCV000555861 benign Mowat-Wilson syndrome 2025-01-14 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 RCV001534594 SCV000721388 benign not provided 2021-02-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311778 SCV000847221 likely benign Inborn genetic diseases 2016-08-15 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genome-Nilou Lab RCV000473891 SCV002045705 benign Mowat-Wilson syndrome 2021-11-07 criteria provided, single submitter clinical testing

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