ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.3259_3263del (p.Arg1087fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003990656 SCV004807520 likely pathogenic Epilepsy, familial focal, with variable foci 1 2024-03-29 criteria provided, single submitter clinical testing

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