ClinVar Miner

Submissions for variant NM_001127671.2(LIFR):c.789A>G (p.Val263=)

gnomAD frequency: 0.00321  dbSNP: rs141925289
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
Invitae RCV000905762 SCV001050359 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000619 SCV001157616 benign Stuve-Wiedemann syndrome 2019-09-25 criteria provided, single submitter clinical testing
GeneDx RCV000905762 SCV001812750 likely benign not provided 2021-10-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV001000619 SCV002084271 likely benign Stuve-Wiedemann syndrome 2019-10-21 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.