ClinVar Miner

Submissions for variant NM_000312.4(PROC):c.1163C>T (p.Ala388Val)

dbSNP: rs769277939
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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 RCV000852001 SCV000899443 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 RCV002221155 SCV002498590 likely pathogenic Thrombophilia due to protein C deficiency, autosomal dominant 2020-01-01 criteria provided, single submitter clinical testing
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000984956 SCV001132871 pathogenic Thrombophilia due to protein C deficiency, autosomal recessive 2019-01-29 no assertion criteria provided clinical testing

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