ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.4295_4297del (p.Val1432del)

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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 RCV003991125 SCV004808445 likely pathogenic Developmental and epileptic encephalopathy, 11 2022-07-05 criteria provided, single submitter clinical testing ACMG Criteria: PM4, PM2_SUP, PP3 (ACMG Version 3); PM6

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