ClinVar Miner

Submissions for variant NM_012154.5(AGO2):c.2389G>A (p.Val797Met)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV002795910 SCV003035406 likely pathogenic Lessel-Kreienkamp syndrome 2022-04-05 criteria provided, single submitter clinical testing

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