ClinVar Miner

Submissions for variant NM_000101.4(CYBA):c.243G>A (p.Gly81=)

gnomAD frequency: 0.00002  dbSNP: rs11547386
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 RCV000930997 SCV001076659 likely benign Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 2024-02-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271487 SCV001452676 uncertain significance Chronic granulomatous disease 2020-01-17 no assertion criteria provided clinical testing

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