ClinVar Miner

Submissions for variant NM_000312.4(PROC):c.752C>A (p.Ala251Glu)

dbSNP: rs568121876
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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 RCV002245354 SCV002515548 likely pathogenic Reduced protein C activity no assertion criteria provided research

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