ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.523+1G>C (rs553299589)

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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 RCV000505605 SCV000599976 pathogenic Arrhythmogenic right ventricular cardiomyopathy, type 10; Dilated cardiomyopathy 1BB 2014-09-17 no assertion criteria provided research This splice site variant is categorized as deleterious according to ACMG guidelines (PMID:18414213). It was an incidental finding in our study, in a 4-year-old female with mixed neuroglial tumor.

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