ClinVar Miner

Submissions for variant NM_002203.4(ITGA2):c.*721A>C

gnomAD frequency: 0.88662  dbSNP: rs1109527
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
Illumina Laboratory Services, Illumina RCV000290003 SCV000457785 benign Platelet-type bleeding disorder 9 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000321716 SCV000484143 benign Combined molybdoflavoprotein enzyme deficiency 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004717555 SCV005301020 benign not provided criteria provided, single submitter not provided

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.