ClinVar Miner

Submissions for variant NM_000397.4(CYBB):c.30C>T (p.Leu10=)

gnomAD frequency: 0.00001  dbSNP: rs781966553
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 RCV000901094 SCV001045446 benign Granulomatous disease, chronic, X-linked 2023-11-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830964 SCV002093618 likely benign Chronic granulomatous disease 2020-09-09 no assertion criteria provided clinical testing

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