ClinVar Miner

Submissions for variant NM_015100.4(POGZ):c.2768dup (p.His923fs)

dbSNP: rs1653579916
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
Baylor Genetics RCV001334812 SCV001527775 pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 2018-06-08 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Daryl Scott Lab, Baylor College of Medicine RCV001334812 SCV005871196 pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 2024-01-01 criteria provided, single submitter clinical testing PVS1, PS2, PM2

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.