ClinVar Miner

Submissions for variant NM_178135.5(HSD17B13):c.812+2dup

gnomAD frequency: 0.19453  dbSNP: rs72613567
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
GeneDx RCV001644377 SCV001861279 benign not provided 2018-07-13 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 32161197, 32039348, 30415504, 30908678, 29562163)
OMIM RCV002319725 SCV002605149 benign HSD17B13 POLYMORPHISM 2022-11-17 no assertion criteria provided literature only
OMIM RCV002319724 SCV002605150 protective FATTY LIVER DISEASE, PROTECTION AGAINST 2022-11-17 no assertion criteria provided literature only

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.