ClinVar Miner

Submissions for variant NM_001558.4(IL10RA):c.1260G>A (p.Ser420=)

gnomAD frequency: 0.00039  dbSNP: rs199604463
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) RCV000728028 SCV000855549 uncertain significance not provided 2017-07-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001079569 SCV001042799 likely benign Inflammatory bowel disease 28 2024-10-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003965504 SCV004780179 likely benign IL10RA-related disorder 2020-06-18 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.