ClinVar Miner

Submissions for variant NM_000501.2(ELN):c.(?_-60)_(*57_?)del

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000607700 SCV000712334 pathogenic Supravalvar aortic stenosis 2016-07-06 criteria provided, single submitter clinical testing Heterozygous whole gene deletion (ELN). The loss of the ELN gene is a well estab lished cause for the cardiac features (SVAS) of Williams Syndrome, which is caus ed by a contiguous deletion on chromosome 7q11 encompassing several genes. This variant meets our criteria to be classified as pathogenic in an autosomal domina nt manner. A breakpoint analysis has not been performed but would be needed to determine the phenotypic outcome (SVAS or Williams syndrome).

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.