Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000811787 | SCV000952073 | benign | Adams-Oliver syndrome 5 | 2022-08-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004028742 | SCV004990174 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2024-01-29 | criteria provided, single submitter | clinical testing | The c.4417G>A (p.G1473S) alteration is located in exon 25 (coding exon 25) of the NOTCH1 gene. This alteration results from a G to A substitution at nucleotide position 4417, causing the glycine (G) at amino acid position 1473 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |