ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.4253dup (p.Val1419fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Cologne University RCV005245575 SCV005894688 likely pathogenic Epilepsy, familial focal, with variable foci 1 2025-02-19 criteria provided, single submitter clinical testing

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