ClinVar Miner

Submissions for variant NM_000397.4(CYBB):c.728T>C (p.Val243Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV003336045 SCV004046562 uncertain significance X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency; Granulomatous disease, chronic, X-linked 2023-04-03 criteria provided, single submitter clinical testing

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