ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.448+311G>A

gnomAD frequency: 0.00003  dbSNP: rs1019053238
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000476729 SCV000557243 likely benign Brugada syndrome 5 2023-08-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002292554 SCV002585735 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing SCN1B: BP4, BP7

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