Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002311137 | SCV000320201 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2023-03-18 | criteria provided, single submitter | clinical testing | The p.S1551I variant (also known as c.4652G>T), located in coding exon 26 of the NOTCH1 gene, results from a G to T substitution at nucleotide position 4652. The serine at codon 1551 is replaced by isoleucine, an amino acid with dissimilar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Invitae | RCV001365748 | SCV001562028 | benign | Adams-Oliver syndrome 5 | 2022-11-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001365748 | SCV002553403 | uncertain significance | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270178 | SCV002553405 | uncertain significance | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing |