ClinVar Miner

Submissions for variant NM_005989.4(AKR1D1):c.864del (p.Ser290fs)

gnomAD frequency: 0.00004  dbSNP: rs759908186
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
Fulgent Genetics, Fulgent Genetics RCV001785905 SCV002809214 likely pathogenic Congenital bile acid synthesis defect 2 2021-10-25 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.