ClinVar Miner

Submissions for variant NM_001032221.6(STXBP1):c.1018G>T (p.Glu340Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Medizinische Genetik Mainz RCV004566392 SCV005043171 pathogenic Developmental and epileptic encephalopathy, 4 2021-12-27 criteria provided, single submitter clinical testing ACMG Criteria: PVS1, PS2, PM2_SUP (ACMG Version 3)

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