Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002378244 | SCV002668126 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2022-10-06 | criteria provided, single submitter | clinical testing | The p.P2334S variant (also known as c.7000C>T), located in coding exon 34 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 7000. The proline at codon 2334 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. |
Invitae | RCV003586353 | SCV004278365 | benign | Adams-Oliver syndrome 5 | 2023-10-30 | criteria provided, single submitter | clinical testing |