ClinVar Miner

Submissions for variant NM_000397.4(CYBB):c.142-6T>C

gnomAD frequency: 0.00003  dbSNP: rs373947610
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001513819 SCV001721507 benign Granulomatous disease, chronic, X-linked 2023-05-20 criteria provided, single submitter clinical testing

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