ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.3933G>A (p.Ala1311=)

gnomAD frequency: 0.00008  dbSNP: rs143011753
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002119789 SCV002398430 likely benign Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2024-10-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499965 SCV002801235 likely benign Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2022-05-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004553723 SCV004751497 likely benign IFT172-related disorder 2020-04-07 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.