ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.2742G>A (p.Gln914=)

gnomAD frequency: 0.00001  dbSNP: rs780189288
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001484578 SCV001688997 likely benign Mowat-Wilson syndrome 2023-11-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002439161 SCV002749413 likely benign Inborn genetic diseases 2017-09-27 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.
GeneDx RCV004699398 SCV005201219 uncertain significance not provided 2023-11-15 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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