ClinVar Miner

Submissions for variant NM_000397.4(CYBB):c.348C>T (p.Thr116=)

gnomAD frequency: 0.00004  dbSNP: rs782735382
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 RCV001510655 SCV001717749 benign Granulomatous disease, chronic, X-linked 2024-01-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001836428 SCV002087129 likely benign Chronic granulomatous disease 2021-06-19 no assertion criteria provided clinical testing

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