ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.2361T>C (p.Asn787=)

gnomAD frequency: 0.00006  dbSNP: rs201567433
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126370 SCV000169874 benign not specified 2013-04-01 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.
Invitae RCV000231756 SCV000289997 benign Mowat-Wilson syndrome 2024-01-29 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000126370 SCV000598019 likely benign not specified 2015-12-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316381 SCV000850898 likely benign Inborn genetic diseases 2016-10-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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 RCV000231756 SCV002045671 benign Mowat-Wilson syndrome 2021-11-07 criteria provided, single submitter clinical testing

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