ClinVar Miner

Submissions for variant NM_001032221.6(STXBP1):c.433T>C (p.Tyr145His)

dbSNP: rs587784455
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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 RCV000147709 SCV000195170 likely pathogenic Developmental and epileptic encephalopathy, 4 2012-12-11 criteria provided, single submitter clinical testing

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