ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.3741T>G (p.Tyr1247Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796551 SCV005416351 likely pathogenic 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 criteria provided, single submitter clinical testing PM2_Supporting+PVS1

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