ClinVar Miner

Submissions for variant NM_000312.4(PROC):c.678+9C>T

dbSNP: rs1053253907
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000000708 SCV000020858 pathogenic Thrombophilia due to protein C deficiency, autosomal dominant 1992-01-01 no assertion criteria provided literature only
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002243609 SCV002515550 uncertain significance Reduced protein C activity no assertion criteria provided clinical testing

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