ClinVar Miner

Submissions for variant NM_198488.5(FAM83H):c.1309_1311delinsTAG (p.His437Ter)

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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 RCV003154834 SCV003842955 pathogenic Amelogenesis imperfecta, hypocalcification type 2023-03-01 criteria provided, single submitter clinical testing

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