Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001236732 | SCV001409468 | benign | Adams-Oliver syndrome 5 | 2023-12-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001587265 | SCV001824561 | uncertain significance | not provided | 2023-08-31 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function |
Genome- |
RCV001236732 | SCV002553307 | uncertain significance | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002271198 | SCV002553308 | uncertain significance | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002357013 | SCV002655416 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2021-08-05 | criteria provided, single submitter | clinical testing | The p.P2128L variant (also known as c.6383C>T), located in coding exon 34 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 6383. The proline at codon 2128 is replaced by leucine, 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. |