ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.448+163A>G

gnomAD frequency: 0.00001  dbSNP: rs761312032
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000541833 SCV000647860 likely benign Brugada syndrome 5 2024-12-08 criteria provided, single submitter clinical testing
GeneDx RCV004592591 SCV005078026 uncertain significance not provided 2024-05-10 criteria provided, single submitter clinical testing Reported using an alternate transcript of the gene; Reported previously in an asymptomatic patient with an idiopathic type 1 Brugada ECG pattern and no family history (PMID: 22840528); In silico analysis indicates that this variant does not alter splicing; This variant is associated with the following publications: (PMID: 23874304, 22840528)

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