ClinVar Miner

Submissions for variant NM_000397.4(CYBB):c.1139G>A (p.Trp380Ter)

dbSNP: rs1602183244
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Molecular Medicine, Children’s Hospital of Fudan University RCV001030041 SCV001190561 likely pathogenic Granulomatous disease, chronic, X-linked 2019-05-10 criteria provided, single submitter clinical testing
GeneDx RCV001593191 SCV001814771 pathogenic not provided 2019-11-27 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 32411386, 31501239, 32081864, 9585602, 29560547, 26886412, 20729109, 25525159)

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