ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6096-2A>G (rs1057520704)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000438350 SCV000517032 pathogenic not provided 2015-05-07 criteria provided, single submitter clinical testing The ATM c.6096-2A>G variant destroys a canonical spliceacceptor site and is predicted to cause abnormal gene splicing, leading to either an abnormal message that is subjectto nonsense-mediated mRNA decay or to an abnormal protein product. This variant has not, to our knowledge,been published in the literature, however we consider it to be pathogenic.

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