ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.1352G>A (p.Arg451His)

gnomAD frequency: 0.00188  dbSNP: rs76085152
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000645663 SCV000767414 benign Familial cold autoinflammatory syndrome 2 2024-01-25 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000645663 SCV001473279 benign Familial cold autoinflammatory syndrome 2 2023-11-29 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263894 SCV002542448 likely benign Autoinflammatory syndrome 2021-01-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003222079 SCV003918177 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing NLRP12: BP4, BS1
Breakthrough Genomics, Breakthrough Genomics RCV003222079 SCV005205959 likely benign not provided criteria provided, single submitter not provided

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.