ClinVar Miner

Submissions for variant NM_000335.4(SCN5A):c.3575G>A (p.Arg1192Gln) (rs41261344)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000252422 SCV000318184 benign Cardiovascular phenotype 2016-02-01 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000171819 SCV000050843 benign Brugada syndrome 2013-06-24 criteria provided, single submitter research
Blueprint Genetics RCV000157488 SCV000207233 uncertain significance Primary familial hypertrophic cardiomyopathy 2014-04-17 no assertion criteria provided clinical testing
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058578 SCV000090098 not provided not provided no assertion provided literature only This variant has been reported in the following publications (PMID:11823453;PMID:12639704;PMID:15121794;PMID:15689442;PMID:15851227;PMID:16155735;PMID:16707561;PMID:17210839;PMID:17905336;PMID:18245395;PMID:18976777;PMID:19841300;PMID:17605181;PMID:20981092;PMID:20129283).
Color RCV000776034 SCV000910629 benign Arrhythmia 2018-03-15 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne RCV000755697 SCV000883129 benign Long QT syndrome 3 2018-11-21 criteria provided, single submitter clinical testing
GeneDx RCV000058578 SCV000171568 not provided not provided 2014-12-04 no assertion provided clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000171819 SCV000443977 likely benign Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000171819 SCV000262483 benign Brugada syndrome 2018-01-15 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154828 SCV000204510 benign not specified 2013-10-18 criteria provided, single submitter clinical testing Arg1193Gln in exon 20 of SCN5A: This variant is not expected to have clinical si gnificance because it has been identified in 5.1% (20/394) Chinese chromosomes b y the 1000 Genomes Project (dbSNP rs41261344).
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000154828 SCV000748020 likely benign not specified 2016-12-28 criteria provided, single submitter clinical testing
OMIM RCV000009990 SCV000030211 pathogenic Brugada syndrome 1 2006-10-01 no assertion criteria provided literature only
OMIM RCV000009991 SCV000030212 risk factor Long qt syndrome 3, acquired, susceptibility to 2006-10-01 no assertion criteria provided literature only
PreventionGenetics RCV000154828 SCV000306543 benign not specified criteria provided, single submitter clinical testing

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