ClinVar Miner

Submissions for variant NM_000397.4(CYBB):c.1300C>T (p.Leu434=)

gnomAD frequency: 0.00002  dbSNP: rs781891223
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000929836 SCV001075472 benign Granulomatous disease, chronic, X-linked 2023-12-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001836021 SCV002087147 likely benign Chronic granulomatous disease 2021-08-20 no assertion criteria provided clinical testing

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