ClinVar Miner

Submissions for variant NM_000377.3(WAS):c.1270_1295del (p.Gly424fs)

dbSNP: rs2147266901
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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 RCV002243549 SCV002512226 likely pathogenic Wiskott-Aldrich syndrome 2021-06-07 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PM2

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