ClinVar Miner

Submissions for variant NM_024740.2(ALG9):c.839C>T (p.Ala280Val)

gnomAD frequency: 0.00003  dbSNP: rs1162365191
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Stefan Somlo Laboratory, Yale School of Medicine RCV000844764 SCV000930619 benign Autosomal dominant polycystic liver disease 2019-05-21 no assertion criteria provided research Variant able to rescue ALG9 knockout effect on Polycystin-1 maturation in vitro

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.