ClinVar Miner

Submissions for variant NM_015100.4(POGZ):c.1679-3C>G

dbSNP: rs376091120
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001751794 SCV001987064 pathogenic not provided 2022-03-03 criteria provided, single submitter clinical testing Not observed in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on splicing; This variant is associated with the following publications: (PMID: 33098347)
University of Washington Center for Mendelian Genomics, University of Washington RCV001543355 SCV001761911 likely pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome no assertion criteria provided research

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.