ClinVar Miner

Submissions for variant NM_000312.4(PROC):c.440G>A (p.Cys147Tyr)

dbSNP: rs1247269491
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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 RCV000851793 SCV000899744 likely pathogenic Reduced protein C activity 2019-02-01 criteria provided, single submitter research
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002281128 SCV002569923 likely pathogenic Thrombophilia due to protein C deficiency, autosomal dominant criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003480806 SCV004226473 likely pathogenic not provided 2022-04-05 criteria provided, single submitter clinical testing PP1, PP3, PM2, PS4_moderate

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