ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.7861-2del (rs886039468)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255729 SCV000322053 pathogenic not provided 2015-04-08 criteria provided, single submitter clinical testing The c.7861-2delA variant destroys the canonical splice acceptor site in intron 45. 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.

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