ClinVar Miner

Submissions for variant NM_012154.5(AGO2):c.1807G>A (p.Ala603Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV003992117 SCV004812066 uncertain significance Lessel-Kreienkamp syndrome 2023-08-31 criteria provided, single submitter clinical testing Criteria applied: PM1

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