ClinVar Miner

Submissions for variant NM_001101.5(ACTB):c.611C>G (p.Ala204Gly) (rs587779776)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne RCV000133574 SCV000778425 pathogenic Baraitser-Winter syndrome 1 2017-04-20 criteria provided, single submitter clinical testing
Department of Genetics,Robert DEBRE University Hospital RCV000133574 SCV000148645 pathogenic Baraitser-Winter syndrome 1 2014-04-15 no assertion criteria provided clinical testing

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