ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.449-1G>A (rs786205835)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000171051 SCV000223615 pathogenic not provided 2014-01-22 criteria provided, single submitter clinical testing c.449-1 G>A: IVS3-1 G>A in intron 3 of the SCN1B gene (NM_001037.4). The c.449-1 G>A splice site mutation in the SCN1B gene destroys the splice acceptor site in intron 3. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. The variant is found in CHILD-EPI panel(s).

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