Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002014590 | SCV002233398 | benign | Adams-Oliver syndrome 5 | 2022-07-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004043935 | SCV004990180 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2024-01-04 | criteria provided, single submitter | clinical testing | The c.6295G>A (p.D2099N) alteration is located in exon 34 (coding exon 34) of the NOTCH1 gene. This alteration results from a G to A substitution at nucleotide position 6295, causing the aspartic acid (D) at amino acid position 2099 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |