ClinVar Miner

Submissions for variant NC_000016.10:g.(?_29813054)_(29813955_?)del

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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 RCV001004745 SCV001164223 pathogenic Seizures, benign familial infantile, 2 2018-05-30 criteria provided, single submitter clinical testing

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