ClinVar Miner

Submissions for variant NM_001032221.6(STXBP1):c.1316TCA[1] (p.Ile440del)

dbSNP: rs1841769844
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Wuerzburg RCV001328485 SCV001519640 uncertain significance Intellectual disability no assertion criteria provided clinical testing
Institute of Human Genetics, University of Wuerzburg RCV001543620 SCV001762291 likely pathogenic Epileptic encephalopathy no assertion criteria provided clinical testing

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