ClinVar Miner

Submissions for variant NM_000313.4(PROS1):c.988C>T (p.Arg330Trp)

gnomAD frequency: 0.00001  dbSNP: rs536077692
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Total submissions: 2
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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 RCV002281210 SCV002569924 uncertain significance Thrombophilia due to protein S deficiency, autosomal dominant criteria provided, single submitter clinical testing
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002245344 SCV002515532 likely pathogenic Protein S deficiency disease no assertion criteria provided research

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