ClinVar Miner

Submissions for variant NM_000335.4(SCN5A):c.2436+12G>A (rs41312419)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000336094 SCV000444069 uncertain significance Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000393121 SCV000444070 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000282195 SCV000444071 uncertain significance Romano-Ward syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000337701 SCV000444072 uncertain significance Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000404199 SCV000444073 uncertain significance Progressive familial heart block 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000302686 SCV000444074 uncertain significance Paroxysmal familial ventricular fibrillation 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000362031 SCV000444075 uncertain significance Sick sinus syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000030437 SCV000053106 benign Cardiomyopathy 2015-06-02 no assertion criteria provided clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041610 SCV000065306 benign not specified 2012-03-19 criteria provided, single submitter clinical testing c.2436+12G>A in Intron 15 of SCN5A: This variant is not expected to have clinica l significance because it is not located within the splice consensus sequence an d has been identified in 0.4% (24/6852) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington .edu/EVS; dbSNP rs41312419).

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