ClinVar Miner

Submissions for variant NM_033068.3(ACP4):c.1199C>A (p.Ala400Asp)

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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 RCV003154839 SCV003843249 uncertain significance Amelogenesis imperfecta, type 1J criteria provided, single submitter clinical testing

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