Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000827503 | SCV000969154 | likely benign | not provided | 2018-05-23 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV002067456 | SCV002470615 | likely benign | Adams-Oliver syndrome 5 | 2023-04-06 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002067456 | SCV002553882 | likely benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002271055 | SCV002553883 | likely benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002363182 | SCV002658186 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2023-04-17 | criteria provided, single submitter | clinical testing | The p.E2075K variant (also known as c.6223G>A), located in coding exon 34 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 6223. The glutamic acid at codon 2075 is replaced by lysine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. 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. |