ClinVar Miner

Submissions for variant NM_012199.5(AGO1):c.569T>G (p.Leu190Arg)

dbSNP: rs1645264815
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Strasbourg University Hospital RCV001730185 SCV001977027 likely pathogenic Intellectual disability 2021-01-01 no assertion criteria provided clinical testing
OMIM RCV003155423 SCV003844059 pathogenic Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures 2023-03-22 no assertion criteria provided literature only

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