ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.1168-7G>A

gnomAD frequency: 0.00005  dbSNP: rs373380537
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001488870 SCV001693396 likely benign Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2024-01-25 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001700759 SCV001919508 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727857 SCV001969703 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004550248 SCV004756393 likely benign IFT172-related disorder 2021-09-13 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.