ClinVar Miner

Submissions for variant NM_182758.4(WDR72):c.1467_1468del (p.Val491fs)

gnomAD frequency: 0.00003  dbSNP: rs606231462
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
Fulgent Genetics, Fulgent Genetics RCV000148931 SCV002811679 pathogenic Amelogenesis imperfecta hypomaturation type 2A3 2022-02-02 criteria provided, single submitter clinical testing
OMIM RCV000148931 SCV000195819 pathogenic Amelogenesis imperfecta hypomaturation type 2A3 2010-12-01 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.