Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000546637 | SCV000659491 | likely benign | Adams-Oliver syndrome 5 | 2023-12-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000769576 | SCV000739488 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2023-02-11 | criteria provided, single submitter | clinical testing | The p.L2408P variant (also known as c.7223T>C), located in coding exon 34 of the NOTCH1 gene, results from a T to C substitution at nucleotide position 7223. The leucine at codon 2408 is replaced by proline, an amino acid with similar 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. |
CHEO Genetics Diagnostic Laboratory, |
RCV000769576 | SCV000900973 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2017-07-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001545385 | SCV001764709 | uncertain significance | not provided | 2020-01-17 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance but additional evidence is not available (ClinVar Variant ID# 477969; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function |