ClinVar Miner

Submissions for variant NM_000397.4(CYBB):c.47T>C (p.Leu16Pro)

dbSNP: rs2146803094
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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 RCV002243550 SCV002512227 uncertain significance Granulomatous disease, chronic, X-linked 2022-01-26 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderate, PP3 supporting

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