ClinVar Miner

Submissions for variant NM_001032221.6(STXBP1):c.87+2T>C

dbSNP: rs1554775960
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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 RCV000503704 SCV000597320 pathogenic Developmental and epileptic encephalopathy, 4 2013-04-16 criteria provided, single submitter clinical testing

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