ClinVar Miner

Submissions for variant NM_000397.4(CYBB):c.6G>C (p.Gly2=)

gnomAD frequency: 0.00029  dbSNP: rs372462475
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 RCV000970649 SCV001118239 benign Granulomatous disease, chronic, X-linked 2024-01-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001827057 SCV002093615 likely benign Chronic granulomatous disease 2020-04-16 no assertion criteria provided clinical testing

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