ClinVar Miner

Submissions for variant NM_001130682.3(GUCY1A1):c.1258C>T (p.Arg420Ter) (rs373182378)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000677373 SCV000803636 pathogenic Moyamoya disease 6 with achalasia 2018-08-16 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV000755172 SCV000882997 pathogenic Moyamoya disease 1 no assertion criteria provided research

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.