ClinVar Miner

Submissions for variant NM_000486.5(AQP2):c.190G>A (p.Gly64Arg) (rs104894326)

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
Athena Diagnostics Inc RCV000518067 SCV000612401 likely pathogenic not provided 2017-03-17 criteria provided, single submitter clinical testing
Genomic Medicine Lab, University of California San Francisco RCV001375962 SCV001572954 pathogenic Nephrogenic diabetes insipidus, autosomal 2019-06-20 criteria provided, single submitter clinical testing
OMIM RCV001375962 SCV000039698 pathogenic Nephrogenic diabetes insipidus, autosomal 1994-10-01 no assertion criteria provided literature only
Natera, Inc. RCV001274488 SCV001458715 likely pathogenic Nephrogenic diabetes insipidus 2020-09-16 no assertion criteria provided 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.