Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000476425 | SCV000548960 | benign | Adams-Oliver syndrome 5 | 2023-08-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001557233 | SCV001778956 | uncertain significance | not provided | 2022-11-30 | 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- |
RCV000476425 | SCV002553528 | uncertain significance | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270508 | SCV002553529 | uncertain significance | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003298488 | SCV003999852 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2023-05-09 | criteria provided, single submitter | clinical testing | The p.T961M variant (also known as c.2882C>T), located in coding exon 18 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 2882. The threonine at codon 961 is replaced by methionine, 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. |