ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.807+3G>C

gnomAD frequency: 0.00194  dbSNP: rs144925893
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081676 SCV000113607 benign not specified 2013-10-25 criteria provided, single submitter clinical testing
GeneDx RCV000081676 SCV000169863 benign not specified 2013-03-28 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 RCV000986821 SCV000555864 benign Mowat-Wilson syndrome 2024-01-27 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514375 SCV000610566 benign not provided 2017-05-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313794 SCV000848151 benign Inborn genetic diseases 2016-11-03 criteria provided, single submitter clinical testing This alteration is classified as 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.
Mendelics RCV000986821 SCV001135957 likely benign Mowat-Wilson syndrome 2019-05-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000986821 SCV002045700 benign Mowat-Wilson syndrome 2021-11-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000514375 SCV004151265 benign not provided 2022-11-01 criteria provided, single submitter clinical testing ZEB2: BP4, BS1, BS2

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.