ClinVar Miner

Submissions for variant NM_015100.4(POGZ):c.2913G>A (p.Glu971=)

gnomAD frequency: 0.00143  dbSNP: rs113903415
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002313525 SCV000848575 likely benign Inborn genetic diseases 2016-12-23 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Invitae RCV000899946 SCV001044240 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000899946 SCV001885512 benign not provided 2020-06-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003338757 SCV004049795 likely benign Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 2023-04-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000899946 SCV004124633 benign not provided 2022-05-01 criteria provided, single submitter clinical testing POGZ: 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.