ClinVar Miner

Submissions for variant NM_052874.5(STX1B):c.160A>T (p.Lys54Ter)

dbSNP: rs2143677745
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Total submissions: 2
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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 RCV001754560 SCV001994800 pathogenic Generalized epilepsy with febrile seizures plus, type 9 2021-10-28 criteria provided, single submitter clinical testing
Solve-RD Consortium RCV001754560 SCV005091452 likely pathogenic Generalized epilepsy with febrile seizures plus, type 9 2022-06-01 no assertion criteria provided provider interpretation Variant confirmed as disease-causing by referring clinical team

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