ClinVar Miner

Submissions for variant NM_000397.4(CYBB):c.804+2T>C

dbSNP: rs2146813774
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomics Facility, Ludwig-Maximilians-Universität München RCV001824239 SCV002073876 pathogenic Granulomatous disease, chronic, X-linked 2021-12-28 criteria provided, single submitter clinical testing

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