ClinVar Miner

Submissions for variant NM_001242897.2(DEPDC5):c.727C>T (p.Arg243Ter) (rs772872014)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva,University Hospital of Geneva RCV000254588 SCV000999816 pathogenic Epilepsy, familial focal, with variable foci 1 2018-08-01 criteria provided, single submitter clinical testing This variant was identified in a patient was pharmaco-resistant epilepsy. The mothers does not harbour this variant, and the father could not be investigated.
GeneReviews RCV000254588 SCV000321014 pathogenic Epilepsy, familial focal, with variable foci 1 2016-04-13 no assertion criteria provided literature only

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