ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.448+48A>C

gnomAD frequency: 0.00004  dbSNP: rs757515975
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001402724 SCV001604575 likely benign Brugada syndrome 5 2024-10-17 criteria provided, single submitter clinical testing
GeneDx RCV000868191 SCV001934794 benign not provided 2015-04-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004538267 SCV004726690 likely benign SCN1B-related disorder 2019-06-13 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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