ClinVar Miner

Submissions for variant NM_000132.4(F8):c.926C>T (p.Pro309Leu)

dbSNP: rs1603435401
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000852249 SCV000899988 uncertain significance Hereditary factor IX deficiency disease 2019-02-01 criteria provided, single submitter research
GeneDx RCV002279525 SCV002567596 uncertain significance not provided 2022-02-19 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31064749)

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