ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.*250dup

dbSNP: rs34381335
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
Illumina Laboratory Services, Illumina RCV000396348 SCV000452165 benign Bifunctional peroxisomal enzyme deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000285560 SCV000452166 benign Perrault syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001672648 SCV001889409 benign not provided 2019-11-14 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.