ClinVar Miner

Submissions for variant NM_001142.2(AMELX):c.47C>A (p.Ala16Asp)

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Total submissions: 1
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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 RCV003154644 SCV003842326 likely pathogenic Amelogenesis imperfecta type 1E 2023-03-01 criteria provided, single submitter clinical testing

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