ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8672-1G>C (rs876660088)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000320277 SCV000330397 pathogenic not provided 2017-05-25 criteria provided, single submitter clinical testing The c.8672-1 G>C splice site variant destroys the canonical splice acceptor site in intron 59. 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 was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.

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