ClinVar Miner

Submissions for variant NM_000301.5(PLG):c.942C>T (p.Phe314=)

gnomAD frequency: 0.35208  dbSNP: rs1130656
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001673118 SCV001884777 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789420 SCV002031469 benign Angioedema, hereditary, 4 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789419 SCV002031470 benign Plasminogen deficiency, type I 2021-10-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001673118 SCV002427117 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528870 SCV001741325 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001528870 SCV001959149 benign not specified no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.