ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.927G>T (p.Gln309His) (rs876657800)

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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 RCV000218248 SCV000271745 uncertain significance not specified 2015-07-02 criteria provided, single submitter clinical testing The p.Gln309His 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 do not provide strong support for or against an impa ct to the protein. In summary, the clinical significance of the p.Gln309His vari ant is uncertain.

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