Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000869038 | SCV000581939 | likely benign | not provided | 2020-12-28 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 18593716) |
Ambry Genetics | RCV002314848 | SCV000738412 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2023-09-06 | criteria provided, single submitter | clinical testing | The p.R1633H variant (also known as c.4898G>A), located in coding exon 26 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 4898. The arginine at codon 1633 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. 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 variant remains unclear. |
Invitae | RCV002063856 | SCV002457692 | likely benign | Adams-Oliver syndrome 5 | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Clinical Molecular Genetics Laboratory, |
RCV000678731 | SCV000804903 | uncertain significance | Shone complex | 2016-03-18 | no assertion criteria provided | clinical testing |