ClinVar Miner

Submissions for variant NM_000101.4(CYBA):c.59-4G>A

gnomAD frequency: 0.00418  dbSNP: rs199989792
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000891589 SCV001035411 benign Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 2025-01-27 criteria provided, single submitter clinical testing
GeneDx RCV001712824 SCV001943623 likely benign not provided 2018-10-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274007 SCV001457689 benign Chronic granulomatous disease 2020-09-16 no assertion criteria provided clinical testing

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