ClinVar Miner

Submissions for variant NM_000397.3(CYBB):c.1499A>G (p.Asp500Gly) (rs137854593)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000011678 SCV000031910 pathogenic Chronic granulomatous disease, X-linked 1994-05-01 no assertion criteria provided literature only
UniProtKB/Swiss-Prot RCV000059242 SCV000090771 not provided not provided no assertion provided not provided

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