Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000462159 | SCV000548961 | benign | Adams-Oliver syndrome 5 | 2023-01-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002418394 | SCV002678646 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2024-03-26 | criteria provided, single submitter | clinical testing | The c.79C>A (p.P27T) alteration is located in exon 2 (coding exon 2) of the NOTCH1 gene. This alteration results from a C to A substitution at nucleotide position 79, causing the proline (P) at amino acid position 27 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |