ClinVar Miner

Submissions for variant NM_207037.2(TCF12):c.1879dup (p.Met627fs)

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Total submissions: 1
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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 RCV004018028 SCV004847200 pathogenic TCF12-related craniosynostosis 2023-08-10 criteria provided, single submitter clinical testing

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