ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.2044_2045del (p.Leu682fs)

dbSNP: rs1355225244
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000700800 SCV000829572 uncertain significance Familial Mediterranean fever 2021-08-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002477610 SCV002778180 uncertain significance Familial Mediterranean fever; Familial Mediterranean fever, autosomal dominant; Acute febrile neutrophilic dermatosis 2022-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000700800 SCV003801794 uncertain significance Familial Mediterranean fever 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003126911 SCV003801805 likely benign Familial Mediterranean fever, autosomal dominant 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003126912 SCV003801816 likely benign Acute febrile neutrophilic dermatosis 2023-02-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV000700800 SCV002093891 likely pathogenic Familial Mediterranean fever 2021-07-30 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.