ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.1588-69G>A

gnomAD frequency: 0.46073  dbSNP: rs224205
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506774 SCV000604154 benign not specified 2018-07-03 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000506774 SCV000707506 benign not specified 2017-04-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001510535 SCV001717593 benign Familial Mediterranean fever 2022-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001533513 SCV001750191 benign Familial Mediterranean fever, autosomal dominant 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001510535 SCV001750192 benign Familial Mediterranean fever 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV000870512 SCV001896894 benign not provided 2018-06-26 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27659338)
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000506774 SCV004101862 benign not specified 2023-11-12 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 80% of patients studied by a panel of primary immunodeficiencies. Number of patients: 77. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV000870512 SCV005293861 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.