ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.930C>T (p.Tyr310=)

gnomAD frequency: 0.01102  dbSNP: rs6711223
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081677 SCV000113608 benign not specified 2013-06-21 criteria provided, single submitter clinical testing
GeneDx RCV000081677 SCV000169864 benign not specified 2014-03-03 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.
Genetic Services Laboratory, University of Chicago RCV000081677 SCV000195507 benign not specified 2013-06-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000232228 SCV000290000 benign Mowat-Wilson syndrome 2024-02-01 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000418591 SCV000511777 benign not provided 2016-09-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311660 SCV000845958 benign Inborn genetic diseases 2016-05-06 criteria provided, single submitter clinical testing This alteration is classified as 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 RCV000232228 SCV002045699 benign Mowat-Wilson syndrome 2021-11-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000418591 SCV004151264 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing ZEB2: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV000418591 SCV005245390 benign not provided criteria provided, single submitter not provided

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