ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.76C>T (p.Gln26Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Immunology and Genetics Kaiserslautern RCV004586380 SCV005077714 pathogenic Developmental and epileptic encephalopathy, 43 2024-05-22 criteria provided, single submitter clinical testing ACMG Criteria: PVS1, PS2, PM2; Variant was found in heterozygous state. De novo-status was comfirmed via segregation analysis in the lab

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