ClinVar Miner

Submissions for variant NM_153646.4(SLC24A4):c.1716+5G>A

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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 RCV003154830 SCV003842953 uncertain significance Amelogenesis imperfecta hypomaturation type 2A5 2023-03-01 criteria provided, single submitter clinical testing

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