ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4971C>G (p.Ser1657Arg)

dbSNP: rs367838230
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
Invitae RCV000476688 SCV000548937 benign Adams-Oliver syndrome 5 2024-01-06 criteria provided, single submitter clinical testing
GeneDx RCV002253254 SCV002525432 uncertain significance not provided 2022-05-17 criteria provided, single submitter clinical testing Has been reported as a likely benign variant in an individual with bicuspid aortic valve in published literature (Kerstjens-Frederikse et al., 2016).; In silico analysis supports a deleterious effect on splicing; This variant is associated with the following publications: (PMID: 26820064)
Genome-Nilou Lab RCV000476688 SCV002553379 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002269929 SCV002553383 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000157395 SCV000207133 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2013-12-13 no assertion criteria provided 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.