ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.2787+6G>A

gnomAD frequency: 0.00086  dbSNP: rs75805075
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
GeneDx RCV001712288 SCV000532315 likely benign not provided 2021-11-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000956627 SCV001103399 likely benign Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2025-01-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488959 SCV002804257 likely benign Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2022-05-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004551491 SCV004796237 likely benign IFT172-related disorder 2019-09-04 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.