ClinVar Miner

Submissions for variant NM_016519.6(AMBN):c.571-1G>C

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Reference Center For Rare Oral And Dental Diseases, Crmr O-rares, Hôpitaux Universitaires De Strasbourg RCV003154570 SCV003842952 uncertain significance Amelogenesis imperfecta type 1F 2023-03-01 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003320277 SCV004024347 likely pathogenic not provided 2023-08-15 criteria provided, single submitter clinical testing
GeneDx RCV003320277 SCV005369426 uncertain significance not provided 2024-04-07 criteria provided, single submitter clinical testing Canonical splice site variant in a gene for which loss-of-function is not an established mechanism of disease; This variant is associated with the following publications: (PMID: 37228816, 38058155)
Leeds Amelogenesis Imperfecta Research Group, University of Leeds RCV003154570 SCV003923337 likely 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.