ClinVar Miner

Submissions for variant NM_000312.4(PROC):c.508G>T (p.Asp170Tyr)

dbSNP: rs2104954946
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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 RCV002245356 SCV002515552 likely pathogenic Reduced protein C activity no assertion criteria provided clinical testing

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