ClinVar Miner

Submissions for variant NM_000377.3(WAS):c.1273_1318del (p.Leu425fs)

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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 RCV003130915 SCV003808022 likely pathogenic Wiskott-Aldrich syndrome 2022-08-17 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PM2 moderated

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