ClinVar Miner

Submissions for variant NM_000133.4(F9):c.845A>G (p.His282Arg)

dbSNP: rs753654616
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851898 SCV000899963 likely pathogenic Hereditary factor VIII deficiency disease 2019-02-01 criteria provided, single submitter research
GeneDx RCV004588168 SCV005079373 uncertain significance not provided 2023-08-29 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31064749, 20860608)
Mayo Clinic Laboratories, Mayo Clinic RCV004588168 SCV005413446 likely pathogenic not provided 2024-02-14 criteria provided, single submitter clinical testing PP1, PM1_supporting, PM2_moderate, PS4_moderate

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