ClinVar Miner

Submissions for variant NM_177559.3(CSNK2A1):c.832C>T (p.Arg278Ter)

dbSNP: rs2018126184
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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 RCV004017911 SCV004847186 pathogenic Okur-Chung neurodevelopmental syndrome 2023-06-15 criteria provided, single submitter clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV002251790 SCV002522452 likely pathogenic not provided no assertion criteria provided clinical testing

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