ClinVar Miner

Submissions for variant NM_016188.5(ACTL6B):c.369+1G>C

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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 RCV003140463 SCV003807184 likely pathogenic Developmental and epileptic encephalopathy, 76 2022-09-28 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PM2 moderated

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