ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.1952T>C (p.Val651Ala)

gnomAD frequency: 0.00068  dbSNP: rs35991093
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) RCV000733957 SCV000862064 uncertain significance not provided 2018-07-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001078613 SCV001132021 likely benign Achondrogenesis, type IA 2025-01-06 criteria provided, single submitter clinical testing
GeneDx RCV000733957 SCV001823858 uncertain significance not provided 2023-06-29 criteria provided, single submitter clinical testing In silico analysis supports 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.