ClinVar Miner

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

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Total submissions: 3
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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
Leeds Amelogenesis Imperfecta Research Group, University of Leeds RCV003154570 SCV003923337 likely pathogenic Amelogenesis imperfecta type 1F 2023-05-04 no assertion criteria provided research

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