ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.410-1G>A (rs886039653)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255229 SCV000322587 pathogenic not provided 2016-06-21 criteria provided, single submitter clinical testing The c.410-1 G>A splice site variant in the WWOX gene destroys the canonical splice acceptor site in intron 4. 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. Although this variant has not been previously reported to our knowledge, we interpret c.410-1 G>A as a pathogenic variant.

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