ClinVar Miner

Submissions for variant NM_000101.4(CYBA):c.453G>A (p.Pro151=)

gnomAD frequency: 0.00002  dbSNP: rs113033082
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 RCV001447113 SCV001650173 likely benign Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 2025-01-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826269 SCV002089424 likely benign Chronic granulomatous disease 2021-07-08 no assertion criteria provided clinical testing

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