ClinVar Miner

Submissions for variant NM_001127898.4(CLCN5):c.1676G>A (p.Trp559Ter) (rs1557194353)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Donald Williams Parsons Laboratory,Baylor College of Medicine RCV000505611 SCV000599970 pathogenic Dent disease type 1 2013-10-28 no assertion criteria provided research This nonsense variant is categorized as deleterious according to ACMG guidelines (PMID:18414213). It was found once in this study maternally inherited in a 8-year-old male with ependymoma, proteinuria, and family history of renal disease and hypertension

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