Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003747897 | SCV004466036 | benign | Adams-Oliver syndrome 5 | 2023-07-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004371886 | SCV005027373 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2024-03-10 | criteria provided, single submitter | clinical testing | The p.G2188V variant (also known as c.6563G>T), located in coding exon 34 of the NOTCH1 gene, results from a G to T substitution at nucleotide position 6563. The glycine at codon 2188 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear. |