ClinVar Miner

Submissions for variant NM_000318.3(PEX2):c.288G>A (p.Gln96=)

gnomAD frequency: 0.00009  dbSNP: rs370236723
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000943559 SCV001089509 likely benign Peroxisome biogenesis disorder 5A (Zellweger) 2024-11-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276116 SCV001461967 uncertain significance Zellweger spectrum disorders 2020-01-24 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003925846 SCV004746969 likely benign PEX2-related disorder 2019-10-28 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.