ClinVar Miner

Submissions for variant NM_000397.4(CYBB):c.698C>T (p.Ala233Val)

gnomAD frequency: 0.00001  dbSNP: rs782174347
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 RCV001316402 SCV001507021 likely benign Granulomatous disease, chronic, X-linked 2023-09-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835570 SCV002087140 uncertain significance Chronic granulomatous disease 2021-04-21 no assertion criteria provided clinical testing

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