ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.210del (p.Ala71fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Molecular Genetics Department, National Research Center RCV004698600 SCV005184326 likely pathogenic Jervell and Lange-Nielsen syndrome 1 2024-01-02 criteria provided, single submitter clinical testing PVS1,PM2

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