ClinVar Miner

Submissions for variant NM_001102564.3(IFT43):c.501C>A (p.Val167=)

gnomAD frequency: 0.00003  dbSNP: rs1248117843
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000889240 SCV001032907 likely benign not provided 2022-10-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505265 SCV002808992 likely benign Cranioectodermal dysplasia 3; Short-rib thoracic dysplasia 18 with polydactyly; Retinitis pigmentosa 81 2022-05-08 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.