ClinVar Miner

Submissions for variant NM_001127671.2(LIFR):c.808T>G (p.Cys270Gly)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics,Cologne University RCV001290338 SCV001478337 uncertain significance Stüve-Wiedemann syndrome 2021-02-01 no assertion criteria provided clinical testing PM2_supporting PP3 PP4 PM3_supporting; the variant was detected in homozygous state (paternal consanguinity)

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.