ClinVar Miner

Submissions for variant NM_000397.4(CYBB):c.171A>G (p.Ala57=)

gnomAD frequency: 0.00004  dbSNP: rs781824754
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001516743 SCV001725074 benign Granulomatous disease, chronic, X-linked 2023-11-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826367 SCV002087126 likely benign Chronic granulomatous disease 2020-01-30 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004753354 SCV005354856 likely benign CYBB-related disorder 2024-07-18 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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