ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.1714G>T (p.Ala572Ser) (rs184442491)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER _CC_NCGL, University of Washington RCV000148854 SCV000190598 uncertain significance Long QT syndrome 2014-06-01 criteria provided, single submitter research Low GERP score may suggest that this variant may belong in a lower pathogenicity class
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000456073 SCV000540279 uncertain significance not specified 2016-03-31 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Reported in 1 paper; 2 additional papers describe presence in control dbs; ExAC: 0.2% (19/9774) African; ClinVar: 1 VUS
Invitae RCV000911062 SCV001056115 likely benign Brugada syndrome 2019-03-05 criteria provided, single submitter clinical testing
Mendelics RCV000987224 SCV001136473 uncertain significance Brugada syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058446 SCV000089966 not provided Congenital long QT syndrome no assertion provided literature only This variant has been reported as associated with Long QT syndrome in the following publications (PMID:19716085). 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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