ClinVar Miner

Submissions for variant NM_000335.4(SCN5A):c.1673A>G (p.His558Arg) (rs1805124)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 16
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000251327 SCV000317411 benign Cardiovascular phenotype 2015-03-16 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000058440 SCV000843708 benign not provided 2017-04-20 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000041604 SCV000050841 benign not specified 2013-06-24 criteria provided, single submitter research
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058440 SCV000089960 not provided not provided no assertion provided literature only This variant has been reported in the following publications (PMID:10807545;PMID:11463728;PMID:11997281;PMID:12569159;PMID:12639704;PMID:14760488;PMID:14985827;PMID:15161528;PMID:15599693;PMID:15689442;PMID:16132053;PMID:16155735;PMID:16239976;PMID:16712702;PMID:17161064;PMID:17210839;PMID:17675083;PMID:17993325;PMID:18093912;PMID:18156160;PMID:18362431;PMID:18426444;PMID:19083750;PMID:19841300;PMID:20129283).
Color RCV000775995 SCV000910524 benign Arrhythmia 2018-03-15 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041604 SCV000225722 benign not specified 2014-11-22 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000335618 SCV000444132 likely benign Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000406777 SCV000444133 likely benign Progressive familial heart block 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000300603 SCV000444134 likely benign Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000339196 SCV000444135 likely benign Romano-Ward syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000405409 SCV000444136 likely benign Paroxysmal familial ventricular fibrillation 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000304709 SCV000444137 likely benign Sick sinus syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000361696 SCV000444138 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041604 SCV000065300 benign not specified 2012-08-09 criteria provided, single submitter clinical testing 27% (1151/5339) of Afr Amer chrom in ESP
PreventionGenetics RCV000041604 SCV000306537 benign not specified criteria provided, single submitter clinical testing
Stanford Center for Inherited Cardiovascular Disease,Stanford University RCV000058440 SCV000924939 benign not provided 2011-07-18 no assertion criteria provided provider interpretation

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.