ClinVar Miner

Submissions for variant NM_001928.4(CFD):c.125C>A (p.Ser42Ter)

gnomAD frequency: 0.00006  dbSNP: rs104894667
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000018032 SCV000038311 pathogenic Recurrent Neisseria infections due to factor D deficiency 2001-07-01 no assertion criteria provided literature only
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001729351 SCV001979467 pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001729351 SCV001980168 pathogenic not provided no assertion criteria provided clinical testing

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