Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000518862 | SCV000620736 | uncertain significance | not provided | 2020-12-09 | 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 does not alter protein structure/function |
Ambry Genetics | RCV002350154 | SCV002646688 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2022-03-17 | criteria provided, single submitter | clinical testing | The p.A1740V variant (also known as c.5219C>T), located in coding exon 28 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 5219. The alanine at codon 1740 is replaced by valine, an amino acid with 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 | RCV002527634 | SCV003246680 | benign | Adams-Oliver syndrome 5 | 2023-05-26 | criteria provided, single submitter | clinical testing |