ClinVar Miner

Submissions for variant NM_001160160.2(SCN5A):c.4714+66G>C (rs137854607)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000010009 SCV000030230 pathogenic Dilated cardiomyopathy 1E 2005-01-26 no assertion criteria provided literature only
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058706 SCV000090226 not provided Primary dilated cardiomyopathy no assertion provided literature only This variant has been reported as associated with Dilated cardiomyopathy in the following publications (PMID:15671429;PMID:18048769). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory.

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