ClinVar Miner

Submissions for variant NM_000313.4(PROS1):c.1095T>G (p.Asn365Lys)

gnomAD frequency: 0.00155  dbSNP: rs199469491
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER _CC_NCGL, University of Washington RCV000148758 SCV000190495 uncertain significance Thrombophilia due to protein S deficiency, autosomal dominant 2014-06-01 criteria provided, single submitter research Low GERP score may suggest that this variant may belong in a lower pathogenicity class
Labcorp Genetics (formerly Invitae), Labcorp RCV001511519 SCV001718781 benign Thrombophilia due to protein S deficiency, autosomal recessive 2025-01-06 criteria provided, single submitter clinical testing
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002243822 SCV002515543 uncertain significance Protein S deficiency disease no assertion criteria provided clinical testing

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