ClinVar Miner

Submissions for variant NM_012154.5(AGO2):c.1404-5T>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003410471 SCV004114566 uncertain significance AGO2-related disorder 2022-12-02 criteria provided, single submitter clinical testing The AGO2 c.1404-5T>G variant is predicted to interfere with splicing. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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