ClinVar Miner

Submissions for variant NM_017563.5(IL17RD):c.878C>T (p.Pro293Leu)

gnomAD frequency: 0.00166  dbSNP: rs150457965
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 RCV000914737 SCV001059921 likely benign not provided 2024-05-07 criteria provided, single submitter clinical testing
GeneDx RCV000914737 SCV001770297 uncertain significance not provided 2019-05-28 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31726455)

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.