ClinVar Miner

Submissions for variant NM_001173990.3(TMEM216):c.341T>G (p.Leu114Arg)

dbSNP: rs386833831
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000000222 SCV000020366 pathogenic Meckel syndrome, type 2 2010-07-01 no assertion criteria provided literature only
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000000222 SCV000082206 probable-pathogenic Meckel syndrome, type 2 no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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.