ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.448+320C>T

gnomAD frequency: 0.00033  dbSNP: rs570257058
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000231866 SCV000291892 likely benign Brugada syndrome 5 2024-01-15 criteria provided, single submitter clinical testing
GeneDx RCV001675680 SCV001893127 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001675680 SCV004042042 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing SCN1B: BP4, BP7

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