ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.1869C>T (p.Ala623=)

gnomAD frequency: 0.00008  dbSNP: rs755919579
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 RCV000906767 SCV001051429 likely benign Peroxisome biogenesis disorder 2B 2023-12-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003895515 SCV004715955 likely benign PEX5-related condition 2023-11-01 criteria provided, single submitter 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.