ClinVar Miner

Submissions for variant NM_004771.4(MMP20):c.1126C>T (p.Gln376Ter)

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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 RCV003154852 SCV003843257 likely pathogenic Amelogenesis imperfecta hypomaturation type 2A2 2023-03-01 criteria provided, single submitter clinical testing

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