ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.747+20_747+24del

dbSNP: rs199624608
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001516174 SCV001724412 benign Peroxisome biogenesis disorder 9B 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000676102 SCV001843104 benign not provided 2018-03-16 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676102 SCV000801844 uncertain significance not provided 2015-12-15 no assertion criteria provided clinical testing
Natera, Inc. RCV001830471 SCV002077253 benign Rhizomelic chondrodysplasia punctata 2019-09-27 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.