ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.3347G>T (p.Gly1116Val)

dbSNP: rs281874713
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
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000021500 SCV000891275 likely pathogenic X-linked Alport syndrome 2017-12-13 criteria provided, single submitter clinical testing
Genomic Medicine Lab, University of California San Francisco RCV000021500 SCV002583544 likely pathogenic X-linked Alport syndrome criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000021500 SCV002810354 likely pathogenic X-linked Alport syndrome 2022-04-29 criteria provided, single submitter clinical testing

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.