ClinVar Miner

Submissions for variant NM_033629.6(TREX1):c.303T>C (p.Asp101=)

gnomAD frequency: 0.00002  dbSNP: rs140833802
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 RCV001451213 SCV001654840 likely benign Aicardi-Goutieres syndrome 1; Chilblain lupus 1; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 2024-10-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711431 SCV005261335 likely benign not provided criteria provided, single submitter not provided

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.