ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.2078C>A (p.Ala693Asp)

gnomAD frequency: 0.00001  dbSNP: rs748535121
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
Eurofins Ntd Llc (ga) RCV000596492 SCV000707140 uncertain significance not provided 2017-03-21 criteria provided, single submitter clinical testing
Invitae RCV001051856 SCV001216036 likely benign Peroxisome biogenesis disorder 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001834900 SCV002077288 uncertain significance Zellweger spectrum disorders 2019-10-28 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.