ClinVar Miner

Submissions for variant NM_001032221.6(STXBP1):c.1110+2T>G

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics RCV003138276 SCV002757998 pathogenic Developmental and epileptic encephalopathy, 4 2022-10-24 criteria provided, single submitter research
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003138276 SCV003807200 likely pathogenic Developmental and epileptic encephalopathy, 4 2022-09-28 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 strong, PM2 moderated

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