ClinVar Miner

Submissions for variant NM_001083116.3(PRF1):c.*209del

dbSNP: rs34914326
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000388575 SCV000363419 benign Familial hemophagocytic lymphohistiocytosis 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001689993 SCV001912777 benign not provided 2021-06-19 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003488510 SCV004233828 benign not specified 2024-01-24 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 67% of patients studied by a panel of primary immunodeficiencies. Number of patients: 59. Only high quality variants are reported.

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.