ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.3693G>A (p.Thr1231=) (rs117738194)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000331146 SCV000677156 benign Brain small vessel disease with hemorrhage 2017-06-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000331146 SCV000382379 benign Brain small vessel disease with hemorrhage 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000374152 SCV000382380 benign Porencephalic cyst 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000282000 SCV000382381 benign Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000243002 SCV000308119 benign not specified 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.