ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.1323C>T (p.Tyr441=)

gnomAD frequency: 0.00006  dbSNP: rs200269703
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
GeneDx RCV000608936 SCV000714748 likely benign not specified 2018-02-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001482913 SCV001687292 likely benign Cryopyrin associated periodic syndrome 2023-12-02 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263821 SCV002542596 uncertain significance Autoinflammatory syndrome 2019-02-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003311858 SCV004009962 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing NLRP3: BP4, BP7

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.