ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.448+161C>A

gnomAD frequency: 0.00001  dbSNP: rs1477139588
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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 RCV001506273 SCV001711192 likely benign Brugada syndrome 5 2023-11-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002511092 SCV002822543 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing SCN1B: BP4, BP7

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