ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.448+314C>A

gnomAD frequency: 0.00043  dbSNP: rs373295182
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000539724 SCV000647866 benign Brugada syndrome 5 2024-01-22 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001201297 SCV001372431 likely benign not specified 2020-06-13 criteria provided, single submitter clinical testing
GeneDx RCV001696221 SCV001915914 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001696221 SCV001928305 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001696221 SCV001954294 likely benign not provided no assertion criteria provided clinical testing

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