ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.2107_2515+2dup

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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 RCV001258322 SCV001250718 likely pathogenic Seizure 2020-04-20 criteria provided, single submitter clinical testing Duplication of exons 24 to 26 absent from public databases. Positive Genotype/phenotype correlation within the family.

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