ClinVar Miner

Submissions for variant NM_000397.4(CYBB):c.141+7A>T

gnomAD frequency: 0.00001  dbSNP: rs781828311
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 RCV001494333 SCV001698986 likely benign Granulomatous disease, chronic, X-linked 2023-07-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279598 SCV001466700 uncertain significance Chronic granulomatous disease 2020-08-20 no assertion criteria provided clinical testing

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