ClinVar Miner

Submissions for variant NM_033068.3(ACP4):c.736G>A (p.Val246Met)

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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 RCV003154841 SCV003843251 likely pathogenic Amelogenesis imperfecta, type 1J 2023-03-01 criteria provided, single submitter clinical testing

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