Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002342502 | SCV002636595 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2022-06-29 | criteria provided, single submitter | clinical testing | The c.461A>G (p.Q154R) alteration is located in exon 4 (coding exon 4) of the NOTCH1 gene. This alteration results from a A to G substitution at nucleotide position 461, causing the glutamine (Q) at amino acid position 154 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Invitae | RCV003586342 | SCV004310705 | benign | Adams-Oliver syndrome 5 | 2024-01-25 | criteria provided, single submitter | clinical testing |