ClinVar Miner

Submissions for variant NM_021830.5(TWNK):c.1729_1732del (p.Ala577fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV002287306 SCV002577592 pathogenic Infantile onset spinocerebellar ataxia 2022-02-18 criteria provided, single submitter clinical testing PVS1, PM2, PP3

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