ClinVar Miner

Submissions for variant NM_001927.4(DES):c.1315G>A (p.Glu439Lys) (rs1114167347)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Erich and Hanna Klessmann Institute for Cardiovascular Research and Development,Heart and Diabetes Center North Rhine-Westphalia RCV000491627 SCV000298163 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 9 2016-05-01 no assertion criteria provided research
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000624503 SCV000740500 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2016-05-11 criteria provided, single submitter clinical testing

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