ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.279+1G>C

dbSNP: rs886039246
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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 RCV001527670 SCV001738789 pathogenic Epilepsy, familial focal, with variable foci 1 no assertion criteria provided clinical testing

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