ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.267G>A (p.Ser89=)

gnomAD frequency: 0.00006  dbSNP: rs746952615
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
Invitae RCV001484803 SCV001689226 likely benign Peroxisome biogenesis disorder, complementation group 7 2023-11-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826316 SCV002094143 likely benign Zellweger spectrum disorders 2021-07-18 no assertion criteria provided 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.