ClinVar Miner

Submissions for variant NM_001170629.2(CHD8):c.6077T>C (p.Leu2026Pro)

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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 RCV003140492 SCV003807246 uncertain significance Intellectual developmental disorder with autism and macrocephaly 2022-03-24 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated, BP4 supporting

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