ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.238-2A>T

dbSNP: rs1064793897
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479338 SCV000567299 pathogenic not provided 2015-07-16 criteria provided, single submitter clinical testing The c.238-2 A>T splice site variant in the CDC73 gene destroys the canonical splice acceptor site in intron 2. 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 it as pathogenic.

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