ClinVar Miner

Submissions for variant NM_000101.4(CYBA):c.516T>G (p.Ala172=)

dbSNP: rs1907154868
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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 RCV005057199 SCV005708373 likely benign Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 2024-02-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277889 SCV001464868 uncertain significance Chronic granulomatous disease 2020-04-22 no assertion criteria provided clinical testing

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