Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000733892 | SCV000861995 | uncertain significance | not provided | 2018-06-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002360860 | SCV002658799 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2020-12-03 | criteria provided, single submitter | clinical testing | The p.R2087W variant (also known as c.6259C>T), located in coding exon 34 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 6259. The arginine at codon 2087 is replaced by tryptophan, an amino acid with dissimilar 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. |
Invitae | RCV002535356 | SCV003447823 | likely benign | Adams-Oliver syndrome 5 | 2023-11-11 | criteria provided, single submitter | clinical testing |