ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.2720C>T (p.Ala907Val)

gnomAD frequency: 0.00004  dbSNP: rs377690924
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
Eurofins Ntd Llc (ga) RCV000176431 SCV000228087 uncertain significance not provided 2015-04-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002478577 SCV002779187 uncertain significance Cranioectodermal dysplasia 1 2022-03-22 criteria provided, single submitter clinical testing
GeneDx RCV000176431 SCV005392267 uncertain significance not provided 2024-04-15 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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.