ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.877G>A (p.Glu293Lys) (rs876657799)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000213251 SCV000271744 uncertain significance not specified 2014-12-31 criteria provided, single submitter clinical testing The p.Glu293Lys variant in DSP has not been previously reported in individuals w ith cardiomyopathy or in large population studies. Computational prediction tool s and conservation analysis suggest that this variant may impact the protein, th ough this information is not predictive enough to determine pathogenicity. In su mmary, the clinical significance of the p.Glu293Lys variant is uncertain.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000622700 SCV000740329 uncertain significance Familial dilated cardiomyopathy 2016-10-28 criteria provided, single submitter clinical testing

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