ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.2815C>T (p.Leu939Phe)

dbSNP: rs886058462
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000290282 SCV000444048 uncertain significance Progressive familial heart block 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000349957 SCV000444049 uncertain significance Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000405040 SCV000444050 uncertain significance Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000314941 SCV000444051 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000350923 SCV000444052 uncertain significance Sick sinus syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000405941 SCV000444053 uncertain significance Congenital long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000297214 SCV000444054 uncertain significance Paroxysmal familial ventricular fibrillation 2016-06-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487514 SCV002784311 uncertain significance Brugada syndrome 1; Long QT syndrome 3; Sick sinus syndrome 1; Progressive familial heart block, type 1A; Ventricular fibrillation, paroxysmal familial, type 1; Dilated cardiomyopathy 1E; SUDDEN INFANT DEATH SYNDROME; Atrial fibrillation, familial, 10 2021-08-23 criteria provided, single submitter clinical testing

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