ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.1480C>T (p.Pro494Ser)

gnomAD frequency: 0.00206  dbSNP: rs144952836
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Total submissions: 17
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081655 SCV000113586 benign not specified 2014-09-09 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081655 SCV000195486 benign not specified 2017-10-13 criteria provided, single submitter clinical testing
GeneDx RCV000081655 SCV000209394 benign not specified 2018-03-08 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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000167557 SCV000511722 benign not provided 2017-01-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000159447 SCV000555865 likely benign Mowat-Wilson syndrome 2024-01-30 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000159447 SCV000782425 likely benign Mowat-Wilson syndrome 2016-11-01 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000167557 SCV000844914 benign not provided 2016-07-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313792 SCV000847375 benign Inborn genetic diseases 2016-06-13 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.
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000159447 SCV001370192 likely benign Mowat-Wilson syndrome 2019-03-06 criteria provided, single submitter clinical testing This variant was classified as: Likely benign. The following ACMG criteria were applied in classifying this variant: BP1,BP6.
Genome-Nilou Lab RCV000159447 SCV002045689 benign Mowat-Wilson syndrome 2021-11-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000159447 SCV002799055 likely benign Mowat-Wilson syndrome 2021-07-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000167557 SCV004011195 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing ZEB2: BP4, BS1
Breakthrough Genomics, Breakthrough Genomics RCV000167557 SCV005255788 likely benign not provided criteria provided, single submitter not provided
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000167557 SCV000218437 likely benign not provided 2015-01-30 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000167557 SCV001927915 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000167557 SCV001966190 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003925072 SCV004743182 likely benign ZEB2-related disorder 2019-12-22 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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