ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.699dup (p.Phe234fs)

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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, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV004776548 SCV005387918 likely pathogenic Epilepsy, familial focal, with variable foci 1 2024-05-07 criteria provided, single submitter clinical testing

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