ClinVar Miner

Submissions for variant NM_000101.4(CYBA):c.531G>A (p.Gly177=)

dbSNP: rs769229409
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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 RCV001401484 SCV001603310 likely benign Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 2022-06-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277888 SCV001464867 uncertain significance Chronic granulomatous disease 2020-08-16 no assertion criteria provided clinical testing

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