ClinVar Miner

Submissions for variant NC_000017.11:g.68534268_68541798del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University RCV002255776 SCV002526663 pathogenic Amelogenesis imperfecta type 1G criteria provided, single submitter clinical testing The heterozygous deletion chr17:66530406_66537936del involving exons 8–11 of FAM20A has been reported in a patient with amelogenesis imperfecta (Pt-1) and her unaffected mother (Nitayavardhana 2020). This variant was identified in compound heterozygous with the c.758A>G (p.Tyr253Cys) in FAM20A which was inherited from her unaffected father.

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