ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.2730G>A (p.Thr910=)

gnomAD frequency: 0.00005  dbSNP: rs774721609
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
PreventionGenetics, part of Exact Sciences RCV000254254 SCV000303466 likely benign not specified criteria provided, single submitter clinical testing
Counsyl RCV000666411 SCV000790699 likely benign Peroxisome biogenesis disorder 4A (Zellweger); Peroxisome biogenesis disorder 4B 2017-04-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001854953 SCV002168549 likely benign Peroxisome biogenesis disorder 2024-10-30 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.