ClinVar Miner

Submissions for variant NM_001733.7(C1R):c.890G>A (p.Gly297Asp)

dbSNP: rs1057519026
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Medical University Innsbruck RCV000412507 SCV000297992 pathogenic Ehlers-Danlos syndrome, periodontal type 1 2016-08-23 criteria provided, single submitter research
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000412507 SCV004175735 likely pathogenic Ehlers-Danlos syndrome, periodontal type 1 2023-12-12 criteria provided, single submitter clinical testing
University of Washington Center for Mendelian Genomics, University of Washington RCV000755111 SCV000882931 likely pathogenic Ehlers-Danlos syndrome, periodontal type 2 2016-10-13 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.