ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.393-4G>A

gnomAD frequency: 0.00001  dbSNP: rs1390882998
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001842704 SCV001342073 likely benign Cardiac arrhythmia 2019-12-09 criteria provided, single submitter clinical testing
GeneDx RCV002473213 SCV002770127 uncertain significance not provided 2022-12-08 criteria provided, single submitter clinical testing Reported in a patient with Brugada syndrome in published literature (Berthome et al., 2019); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; This variant is associated with the following publications: (PMID: 30193851)
Invitae RCV002473213 SCV004301734 likely benign not provided 2023-08-16 criteria provided, single submitter clinical testing

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