Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001365835 | SCV001562118 | benign | Adams-Oliver syndrome 5 | 2023-07-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001586152 | SCV001818744 | uncertain significance | not provided | 2023-05-01 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Genome- |
RCV001365835 | SCV002553428 | uncertain significance | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002271232 | SCV002553429 | uncertain significance | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002329373 | SCV002626774 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2023-11-08 | criteria provided, single submitter | clinical testing | The p.G1437R variant (also known as c.4309G>A), located in coding exon 25 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 4309. The glycine at codon 1437 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |