ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.340-71G>A

gnomAD frequency: 0.98050  dbSNP: rs927181
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987791 SCV001137244 benign Rhizomelic chondrodysplasia punctata type 1 2019-05-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001543970 SCV001762885 benign Peroxisome biogenesis disorder 9B 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000987791 SCV001762886 benign Rhizomelic chondrodysplasia punctata type 1 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001683706 SCV001901971 benign not provided 2018-06-25 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30747064)
Invitae RCV001543970 SCV003246340 benign Peroxisome biogenesis disorder 9B 2024-01-12 criteria provided, single submitter 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.