ClinVar Miner

Submissions for variant NM_006922.4(SCN3A):c.4802T>C (p.Ile1601Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003140465 SCV003807186 uncertain significance Developmental and epileptic encephalopathy, 62 2022-10-11 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated, PP2 supporting, PP3 supporting

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