Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002315129 | SCV000739497 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2023-08-22 | criteria provided, single submitter | clinical testing | The c.2338C>T (p.R780W) alteration is located in exon 14 (coding exon 14) of the NOTCH1 gene. This alteration results from a C to T substitution at nucleotide position 2338, causing the arginine (R) at amino acid position 780 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Invitae | RCV002531843 | SCV003292232 | benign | Adams-Oliver syndrome 5 | 2023-10-03 | criteria provided, single submitter | clinical testing |