ClinVar Miner

Submissions for variant NM_001142.2(AMELX):c.143del (p.Pro48fs)

dbSNP: rs1603038146
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
The Fourth Military Medical University, School of Stomatology RCV000789003 SCV000882519 pathogenic Amelogenesis imperfecta 2018-07-24 no assertion criteria provided research The proband presented with small teeth having a generalized yellow color and thin rough enamel surfaces. Her father had similar findings and a partial denture. Her mother had multiple vertical cracks and uneven white color of her tooth enamel.

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