ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.340-103A>G

gnomAD frequency: 0.10001  dbSNP: rs2295592
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
Genome-Nilou Lab RCV001543968 SCV001762883 likely benign Peroxisome biogenesis disorder 9B 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001543969 SCV001762884 benign Rhizomelic chondrodysplasia punctata type 1 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001655853 SCV001866956 benign not provided 2018-07-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001655853 SCV005227756 likely benign not provided criteria provided, single submitter not provided

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.