Submissions for variant NM_000313.4(PROS1):c.1528G>A (p.Val510Met)

gnomAD frequency: 0.00331  dbSNP: rs138925964

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000458043	SCV000561929	benign	Thrombophilia due to protein S deficiency, autosomal recessive	2024-01-21	criteria provided, single submitter	clinical testing
Mendelics	RCV000148749	SCV001136555	benign	Thrombophilia due to protein S deficiency, autosomal dominant	2019-05-28	criteria provided, single submitter	clinical testing
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	RCV000148749	SCV002569211	uncertain significance	Thrombophilia due to protein S deficiency, autosomal dominant		criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002505136	SCV002806475	likely benign	Thrombophilia due to protein S deficiency, autosomal dominant; Thrombophilia due to protein S deficiency, autosomal recessive	2021-07-30	criteria provided, single submitter	clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	RCV003114293	SCV003799031	uncertain significance	not provided	2022-12-13	criteria provided, single submitter	clinical testing	PS4, BS2
Mayo Clinic Laboratories, Mayo Clinic	RCV003114293	SCV004226130	uncertain significance	not provided	2023-01-10	criteria provided, single submitter	clinical testing	BS1, BS2, PM1_supporting, PS3, PS4_moderate
Breakthrough Genomics, Breakthrough Genomics	RCV003114293	SCV005300486	benign	not provided		criteria provided, single submitter	not provided
CSER _CC_NCGL, University of Washington	RCV000148749	SCV000190486	likely benign	Thrombophilia due to protein S deficiency, autosomal dominant	2014-06-01	no assertion criteria provided	research
Russ Altman Lab, Stanford University	RCV000148749	SCV000298014	risk factor	Thrombophilia due to protein S deficiency, autosomal dominant	2015-05-01	no assertion criteria provided	research
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	RCV002243821	SCV002515540	likely pathogenic	Protein S deficiency disease		no assertion criteria provided	research
PreventionGenetics, part of Exact Sciences	RCV003917466	SCV004731915	likely benign	PROS1-related disorder	2021-01-29	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).