ClinVar Miner

Submissions for variant NM_000265.7(NCF1):c.269G>A (p.Arg90His)

gnomAD frequency: 0.00110  dbSNP: rs201802880
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002503173 SCV002813373 uncertain significance Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 2022-04-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001723292 SCV005188535 uncertain significance not provided criteria provided, single submitter not provided
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001723292 SCV001958900 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001723292 SCV001965422 uncertain significance not provided no assertion criteria provided clinical testing
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska" RCV002283554 SCV002573421 likely pathogenic Granulomatous disease, chronic, X-linked 2022-05-01 no assertion criteria provided clinical testing

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