Submissions for variant NM_000301.5(PLG):c.1469G>A (p.Arg490Gln)

gnomAD frequency: 0.00140  dbSNP: rs140537724

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625418	SCV000745309	uncertain significance	Plasminogen deficiency, type I	2017-11-03	criteria provided, single submitter	clinical testing
Invitae	RCV001579765	SCV002461616	likely benign	not provided	2024-01-12	criteria provided, single submitter	clinical testing
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	RCV002222014	SCV002499604	uncertain significance	Deep venous thrombosis		criteria provided, single submitter	clinical testing
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	RCV002280865	SCV002569204	uncertain significance	Thrombus		criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003935005	SCV004754060	likely benign	PLG-related condition	2023-06-14	criteria provided, single submitter	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).
Birmingham Platelet Group; University of Birmingham	RCV001270566	SCV001450865	uncertain significance	Abnormal bleeding; Thrombocytopenia	2020-05-01	no assertion criteria provided	research
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579765	SCV001808444	uncertain significance	not provided		no assertion criteria provided	clinical testing