ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.2682T>G (p.Ser894=)

gnomAD frequency: 0.00002  dbSNP: rs776376597
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
PreventionGenetics, part of Exact Sciences RCV000242606 SCV000314424 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002058335 SCV002463606 likely benign Jeune thoracic dystrophy; Nephronophthisis 2024-11-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479970 SCV002801039 likely benign Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2022-01-07 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.