ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.3228+6C>G

gnomAD frequency: 0.00019  dbSNP: rs368048551
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000334130 SCV000444020 uncertain significance Sick sinus syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000388696 SCV000444021 uncertain significance Progressive familial heart block 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000279848 SCV000444022 uncertain significance Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000316211 SCV000444023 uncertain significance Congenital long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000375997 SCV000444024 uncertain significance Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000281521 SCV000444025 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000341087 SCV000444026 uncertain significance Paroxysmal familial ventricular fibrillation 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001718734 SCV000514545 likely benign not provided 2019-09-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001718734 SCV000760328 likely benign not provided 2025-01-22 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001841262 SCV001344622 likely benign Cardiac arrhythmia 2019-02-28 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001841262 SCV004819745 likely benign Cardiac arrhythmia 2024-02-05 criteria provided, single submitter clinical testing

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