ClinVar Miner

Submissions for variant NM_001032221.6(STXBP1):c.57_59del (p.Ile19_Lys20delinsMet)

dbSNP: rs1057519538
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neurogenetics Laboratory - MEYER, AOU Meyer RCV000417033 SCV000494525 pathogenic Epileptic encephalopathy 2016-11-16 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268795 SCV001447978 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing

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