ClinVar Miner

Submissions for variant NM_016519.6(AMBN):c.209C>G (p.Ser70Ter)

gnomAD frequency: 0.00011  dbSNP: rs146148316
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
GeneDx RCV002278903 SCV002567296 uncertain significance not provided 2022-02-10 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is not a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge
Reference Center For Rare Oral And Dental Diseases, Crmr O-rares, Hôpitaux Universitaires De Strasbourg RCV003154240 SCV003842949 uncertain significance Amelogenesis imperfecta type 1F 2023-03-01 criteria provided, single submitter clinical testing
Leeds Amelogenesis Imperfecta Research Group, University of Leeds RCV003154240 SCV003923335 pathogenic Amelogenesis imperfecta type 1F 2023-05-04 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.