ClinVar Miner

Submissions for variant NM_001032221.6(STXBP1):c.862T>C (p.Trp288Arg)

dbSNP: rs1588324025
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000988254 SCV001137905 likely pathogenic Developmental and epileptic encephalopathy, 4 2019-05-28 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000988254 SCV001429080 likely pathogenic Developmental and epileptic encephalopathy, 4 2018-08-22 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001255351 SCV001431681 likely pathogenic Intellectual disability 2020-08-03 criteria provided, single submitter clinical testing The variant c.862T>C, p.(Trp288Arg) was identified in an individual with neurodevelopmental disorder (NDD) and classified as Likely pathogenic according to ACMG guidelines. Inheritance for this variant was DNV.The variant likely explains the NDD in this individual.

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