Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001760858 | SCV001991492 | uncertain significance | not provided | 2019-07-29 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function |
Ambry Genetics | RCV002359236 | SCV002657042 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2022-05-02 | criteria provided, single submitter | clinical testing | The p.V205I variant (also known as c.613G>A), located in coding exon 4 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 613. The valine at codon 205 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is conserved. 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 | RCV002544029 | SCV003325703 | benign | Adams-Oliver syndrome 5 | 2023-04-14 | criteria provided, single submitter | clinical testing |