ClinVar Miner

Submissions for variant NM_001032221.6(STXBP1):c.325+2_325+3del

dbSNP: rs1554776853
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000590900 SCV000700174 likely pathogenic Developmental and epileptic encephalopathy, 4 2016-11-01 criteria provided, single submitter clinical testing
GeneDx RCV003225094 SCV003921227 pathogenic not provided 2022-11-01 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals RCV000590900 SCV000898146 pathogenic Developmental and epileptic encephalopathy, 4 2018-11-26 no assertion criteria provided clinical testing

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