ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.*2139_*2145AGG[2]GGAGAAGAGAGTAGGAAAAAGGAGGG[1]

dbSNP: rs45592631
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000290096 SCV000443507 likely benign Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000345293 SCV000443508 likely benign Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000400043 SCV000443509 likely benign Sick sinus syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000305537 SCV000443510 likely benign Progressive familial heart block 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000341745 SCV000443511 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000390531 SCV000443512 likely benign Paroxysmal familial ventricular fibrillation 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000301557 SCV000443513 likely benign Congenital long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing

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