ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.2131-10T>C (rs369821143)

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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 RCV000154712 SCV000204392 uncertain significance not specified 2014-01-22 criteria provided, single submitter clinical testing The 2131-10T>C variant in DSP has not been reported in individuals with cardiomy opathy, but has been identified in 3/4406 of African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; rs369821143). This variant is located in the 3' splice region. Computational tools do not sug gest an impact to splicing. However, this information is not predictive enough t o rule out pathogenicity. Additional information is needed to fully assess the c linical significance of the 2131-10T>C variant.

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