ClinVar Miner

Submissions for variant NM_000312.4(PROC):c.125G>A (p.Arg42His)

gnomAD frequency: 0.00001  dbSNP: rs369504169
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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 RCV000851677 SCV000899461 likely pathogenic Deep venous thrombosis; Thromboembolism 2019-02-01 criteria provided, single submitter research
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV000148739 SCV002569922 likely pathogenic Thrombophilia due to protein C deficiency, autosomal dominant criteria provided, single submitter clinical testing
CSER _CC_NCGL, University of Washington RCV000148739 SCV000190476 likely pathogenic Thrombophilia due to protein C deficiency, autosomal dominant 2014-06-01 no assertion criteria provided research

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