ClinVar Miner

Submissions for variant NM_198056.2(SCN5A):c.3893C>T (p.Pro1298Leu) (rs28937319)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV001184304 SCV001350252 uncertain significance Arrhythmia 2018-12-10 criteria provided, single submitter clinical testing
OMIM RCV000009994 SCV000030215 pathogenic Sick sinus syndrome 1, autosomal recessive 2003-10-01 no assertion criteria provided literature only
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058612 SCV000090132 not provided Sick sinus syndrome no assertion provided literature only This variant has been reported as associated with Sick sinus syndrome in the following publications (PMID:14523039;PMID:20384651;PMID:20448214;PMID:20539757). 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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