ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.448+140G>A

gnomAD frequency: 0.00005  dbSNP: rs775648401
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001497902 SCV001702640 likely benign Brugada syndrome 5 2023-12-07 criteria provided, single submitter clinical testing
GeneDx RCV001820207 SCV002064230 likely benign not provided 2021-02-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001820207 SCV004145413 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing SCN1B: BP4, BP7

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