ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1197del (p.Ser399fs)

dbSNP: rs587780365
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117334 SCV000151515 pathogenic Developmental and epileptic encephalopathy, 7 2013-03-28 criteria provided, single submitter clinical testing

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