ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.113_115GCA[3] (p.Ser39dup) (rs113994176)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000014570 SCV000034824 pathogenic Arrhythmogenic right ventricular cardiomyopathy, type 12 2007-11-01 no assertion criteria provided literature only
GeneReviews RCV000014570 SCV000040897 pathologic Arrhythmogenic right ventricular cardiomyopathy, type 12 2008-07-10 no assertion criteria provided curation Converted during submission to Pathogenic.

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