ClinVar Miner

Submissions for variant NM_000397.4(CYBB):c.338-13C>T

gnomAD frequency: 0.00064  dbSNP: rs193922447
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029627 SCV000052279 uncertain Granulomatous disease, chronic, X-linked 2011-08-18 criteria provided, single submitter curation Converted during submission to Uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000029627 SCV002427322 benign Granulomatous disease, chronic, X-linked 2024-01-31 criteria provided, single submitter clinical testing

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