Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001349486 | SCV001543834 | benign | Adams-Oliver syndrome 5 | 2023-10-09 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001527334 | SCV001738305 | uncertain significance | not provided | 2022-06-29 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function |
Genome- |
RCV001349486 | SCV002553933 | uncertain significance | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002271224 | SCV002553934 | uncertain significance | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002413825 | SCV002716129 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2021-02-05 | criteria provided, single submitter | clinical testing | The p.V584I variant (also known as c.1750G>A), located in coding exon 11 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 1750. The valine at codon 584 is replaced by isoleucine, an amino acid with highly similar 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. |