Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003068357 | SCV003450644 | benign | Adams-Oliver syndrome 5 | 2022-08-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004070333 | SCV005027270 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2024-02-26 | criteria provided, single submitter | clinical testing | The p.N787H variant (also known as c.2359A>C), located in coding exon 15 of the NOTCH1 gene, results from an A to C substitution at nucleotide position 2359. The asparagine at codon 787 is replaced by histidine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear. |