ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.408C>T (p.Thr136=)

gnomAD frequency: 0.00002  dbSNP: rs200126026
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002131082 SCV002455728 likely benign Brugada syndrome 5 2023-08-22 criteria provided, single submitter clinical testing
GeneDx RCV003229083 SCV003925931 uncertain significance not provided 2023-05-18 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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