Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000229962 | SCV000290297 | likely benign | Adams-Oliver syndrome 5 | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002225529 | SCV002504336 | uncertain significance | not provided | 2023-10-20 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function |
Ambry Genetics | RCV002365212 | SCV002657885 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2023-01-20 | criteria provided, single submitter | clinical testing | The p.G2126R variant (also known as c.6376G>A), located in coding exon 34 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 6376. The glycine at codon 2126 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is not well 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. |