ClinVar Miner

Submissions for variant NM_000312.4(PROC):c.759C>A (p.His253Gln)

gnomAD frequency: 0.00001  dbSNP: rs1458669732
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002245353 SCV002515547 likely pathogenic Reduced protein C activity no assertion criteria provided research

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