ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.6668C>T (p.Ala2223Val) (rs1044009)

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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000249070 SCV000341666 benign not specified 2016-05-18 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000278901 SCV000410938 benign Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000249070 SCV000304275 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.