ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.207+14G>A (rs16969924)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127897 SCV000171483 benign not specified 2012-04-02 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.
Illumina Clinical Services Laboratory,Illumina RCV000290912 SCV000411516 likely benign Generalized epilepsy with febrile seizures plus 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000329508 SCV000411517 likely benign Cardiac conduction defect, nonspecific 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000377086 SCV000411518 likely benign Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing

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