ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.779G>C (p.Arg260Pro)

dbSNP: rs180177442
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788842 SCV000928108 likely pathogenic not provided 2018-12-11 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262696 SCV002542645 uncertain significance Autoinflammatory syndrome 2021-11-24 criteria provided, single submitter clinical testing
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000084230 SCV000116366 not provided Familial cold autoinflammatory syndrome 1 no assertion provided not provided
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV001028056 SCV001190830 likely pathogenic Chronic infantile neurological, cutaneous and articular syndrome 2020-02-05 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.