ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1045-8T>A (rs201633815)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000615703 SCV000731443 uncertain significance not specified 2017-01-31 criteria provided, single submitter clinical testing The c.1045-8T>A variant in DSP has not been previously reported in individuals w ith cardiomyopathy and was absent from large population studies. This variant is located in the 3' splice region. Computational tools suggest a possible impact to splicing; however, this information is not predictive enough to determine pat hogenicity. In summary, the clinical significance of the c.1045-8T>A variant is uncertain.

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