ClinVar Miner

Submissions for variant NM_000101.4(CYBA):c.135G>A (p.Ala45=)

dbSNP: rs372187837
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002069415 SCV002384403 likely benign Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 2024-01-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277896 SCV001464875 uncertain significance Chronic granulomatous disease 2020-11-03 no assertion criteria provided clinical testing

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