Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular 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). |