ClinVar Miner

Submissions for variant NM_012199.5(AGO1):c.569T>C (p.Leu190Pro)

dbSNP: rs1645264815
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003321817 SCV004026488 likely pathogenic not provided 2021-12-08 criteria provided, single submitter clinical testing PM1, PS4_MOD, PP3, PP2, PM2_SUP
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV001264711 SCV001442894 likely pathogenic Neurodevelopmental abnormality 2020-06-04 no assertion criteria provided clinical testing
OMIM RCV003155383 SCV003844055 pathogenic Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures 2012-11-10 no assertion criteria provided literature only

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