ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5950C>T (p.Arg1984Ter)

dbSNP: rs1554826746
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
Ambry Genetics RCV000623489 SCV000741055 pathogenic Inborn genetic diseases 2015-09-22 criteria provided, single submitter clinical testing
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen RCV003444001 SCV004171035 pathogenic Aortic valve disease 1 2023-11-14 criteria provided, single submitter clinical testing The variant is not present in the general population (gnomAD). It is not listed in the dbSNP151 database. The variant has been reported twice as pathogenic in the ClinVar database (Variation ID 520784), but without a phenotypic description or in a different clinical context. In the literature, the variant has already been reported in a patient with aortic valve stenosis and a thoracic aortic aneurysm.
Yale Center for Mendelian Genomics, Yale University RCV001849412 SCV002106968 pathogenic KA-like vemurafenib-induced squamous lesions 2016-06-07 no assertion criteria provided literature only

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.