Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002315089 | SCV000739428 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2023-08-02 | criteria provided, single submitter | clinical testing | The c.4927G>A (p.A1643T) alteration is located in exon 26 (coding exon 26) of the NOTCH1 gene. This alteration results from a G to A substitution at nucleotide position 4927, causing the alanine (A) at amino acid position 1643 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Gene |
RCV001548292 | SCV001768175 | likely benign | not provided | 2021-01-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002531841 | SCV003447276 | benign | Adams-Oliver syndrome 5 | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001548292 | SCV004162010 | uncertain significance | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | NOTCH1: PP2 |