ClinVar Miner

Submissions for variant NM_001072.4(UGT1A6):c.1453T>G (p.Tyr485Asp) (rs34993780)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000763480 SCV000894263 likely pathogenic Bilirubin, serum level of, quantitative trait locus 1; Crigler Najjar syndrome, type 1; Lucey-Driscoll syndrome; Crigler-Najjar syndrome, type II; Gilbert's syndrome 2018-10-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000147900 SCV000195391 pathogenic Hyperbilirubinemia 2014-04-10 criteria provided, single submitter clinical testing
OMIM RCV000013073 SCV000033319 pathogenic Lucey-Driscoll syndrome 2007-12-01 no assertion criteria provided literature only
OMIM RCV000013074 SCV000033320 pathogenic Crigler-Najjar syndrome, type II 2007-12-01 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.