ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.448+8G>C

gnomAD frequency: 0.00006  dbSNP: rs200222933
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127903 SCV000171489 benign not specified 2014-04-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001083585 SCV000557248 likely benign Brugada syndrome 5 2024-01-28 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000127903 SCV000843578 likely benign not specified 2021-04-29 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000127903 SCV002600427 benign not specified 2022-10-02 criteria provided, single submitter clinical testing

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