ClinVar Miner

Submissions for variant NM_004917.5(KLK4):c.443G>T (p.Cys148Phe)

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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 RCV003155003 SCV003843252 uncertain significance Amelogenesis imperfecta type 2A1 2023-03-01 criteria provided, single submitter clinical testing

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