ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4003C>T (p.Gln1335Ter) (rs879255521)

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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 Genomic medicine, Geneva,University Hospital of Geneva RCV000234860 SCV000292233 likely pathogenic Primary dilated cardiomyopathy 2015-07-30 criteria provided, single submitter clinical testing This mutation in the DSP gene was identified in a young patient with dilated cardiomyopathy.

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