ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.2356C>T (p.Arg786Trp) (rs267608239)

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
Counsyl RCV000669028 SCV000793724 uncertain significance Peroxisome biogenesis disorder 4a (zellweger); Peroxisome biogenesis disorder 4B 2017-08-29 criteria provided, single submitter clinical testing
Johns Hopkins Genomics,Johns Hopkins University RCV001007606 SCV001167290 uncertain significance Peroxisome biogenesis disorder 4a (zellweger) 2019-09-26 criteria provided, single submitter clinical testing
Reproductive Development, Murdoch Childrens Research Institute RCV001201401 SCV001244307 pathogenic Sensorineural hearing loss; Cerebellar ataxia; Cognitive impairment; Paroxysmal dystonia; Premature ovarian insufficiency; Peripheral neuropathy 2019-10-21 no assertion criteria provided research

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.