ClinVar Miner

Submissions for variant NM_000101.4(CYBA):c.78C>T (p.Ile26=)

gnomAD frequency: 0.00005  dbSNP: rs759139349
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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 RCV002152496 SCV002413210 likely benign Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 2023-11-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004706357 SCV005217603 likely benign not provided criteria provided, single submitter not provided

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