Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000426450 | SCV000535462 | uncertain significance | not provided | 2023-05-01 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV001857555 | SCV002180053 | benign | Adams-Oliver syndrome 5 | 2023-04-14 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001857555 | SCV002553550 | uncertain significance | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002269928 | SCV002553551 | uncertain significance | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002426765 | SCV002742042 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2021-10-29 | criteria provided, single submitter | clinical testing | The p.G841S variant (also known as c.2521G>A), located in coding exon 16 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 2521. The glycine at codon 841 is replaced by serine, 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. |
Blueprint Genetics | RCV000157394 | SCV000207132 | uncertain significance | Arterial dissection | 2014-10-06 | no assertion criteria provided | clinical testing |