ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.1143+2T>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV001004764 SCV001164244 pathogenic Epilepsy, familial focal, with variable foci 1 2020-07-24 criteria provided, single submitter clinical testing Splicing testing showed aberrant transcripts.

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