Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000457059 | SCV000548943 | benign | Adams-Oliver syndrome 5 | 2023-11-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002379458 | SCV002694302 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2022-04-22 | criteria provided, single submitter | clinical testing | The c.1309G>A (p.E437K) alteration is located in exon 8 (coding exon 8) of the NOTCH1 gene. This alteration results from a G to A substitution at nucleotide position 1309, causing the glutamic acid (E) at amino acid position 437 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |