ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.2707G>T (p.Ala903Ser)

dbSNP: rs730881200
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000159482 SCV000209434 uncertain significance not provided 2023-03-28 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001323312 SCV001514220 likely benign Mowat-Wilson syndrome 2022-08-28 criteria provided, single submitter clinical testing
Baylor Genetics RCV001323312 SCV001522267 uncertain significance Mowat-Wilson syndrome 2019-03-29 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Genome-Nilou Lab RCV001323312 SCV002045621 uncertain significance Mowat-Wilson syndrome 2021-11-07 criteria provided, single submitter clinical testing

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.