ClinVar Miner

Submissions for variant NM_012154.5(AGO2):c.1918C>A (p.Gln640Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003129498 SCV003806140 uncertain significance not provided 2022-08-25 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
3billion RCV004725647 SCV005328559 likely benign Lessel-Kreienkamp syndrome 2024-09-20 criteria provided, single submitter clinical testing The variant was identified in at least one patient who was diagnosed with a different variant in another gene and showed no symptoms related to the gene containing the variant in question.

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