ClinVar Miner

Submissions for variant NM_001173990.3(TMEM216):c.222del (p.Phe76fs)

gnomAD frequency: 0.00001  dbSNP: rs1057517512
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411381 SCV000487668 likely pathogenic Meckel syndrome, type 2 2016-07-21 criteria provided, single submitter clinical testing
Counsyl RCV000412090 SCV000487669 likely pathogenic Joubert syndrome 2 2016-07-21 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003129853 SCV003814071 likely pathogenic not provided 2022-08-08 criteria provided, single submitter 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.