ClinVar Miner

Submissions for variant NM_019616.4(F7):c.152T>A (p.Leu51Gln)

gnomAD frequency: 0.00001  dbSNP: rs45572939
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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 RCV000852075 SCV000899600 likely pathogenic Factor VII deficiency 2019-02-01 criteria provided, single submitter research
GeneDx RCV004719981 SCV005325026 uncertain significance not provided 2024-02-24 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; Also known as L13Q; This variant is associated with the following publications: (PMID: 11129332, 37761907, 31064749)

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