ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.3664T>G (p.Cys1222Gly) (rs199638166)

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
CeGaT Praxis fuer Humangenetik Tuebingen RCV000487935 SCV000575149 pathogenic not provided 2018-03-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000499633 SCV000596041 uncertain significance not specified 2017-05-10 criteria provided, single submitter clinical testing
GenomeConnect - CureCADASIL RCV000999639 SCV001156359 not provided Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 no assertion provided phenotyping only Variant interpreted as Pathogenic and reported on 11-07-2016 by Lab or GTR ID 1012. GenomeConnect-CureCADASIL assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant.

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.