ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.1234-8_1234-7dup (rs200121485)

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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000178749 SCV000230895 benign not specified 2014-11-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000265794 SCV000463349 likely benign Peroxisome biogenesis disorder 1A (Zellweger) 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001080419 SCV000761086 benign Peroxisome biogenesis disorders, Zellweger syndrome spectrum 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000676095 SCV001144904 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000676095 SCV000801835 benign not provided 2017-08-17 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.