ClinVar Miner

Submissions for variant NM_198488.5(FAM83H):c.973C>T (p.Arg325Ter)

dbSNP: rs137854435
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 RCV000000806 SCV002791471 pathogenic Amelogenesis imperfecta, hypocalcification type 2021-12-27 criteria provided, single submitter clinical testing
OMIM RCV004558222 SCV000020956 pathogenic Amelogenesis imperfecta, type 3A 2012-01-01 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.