Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001050819 | SCV001214945 | likely benign | Adams-Oliver syndrome 5 | 2023-07-07 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV003150380 | SCV003837919 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2022-02-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003243436 | SCV003943769 | uncertain significance | Inborn genetic diseases | 2023-04-12 | criteria provided, single submitter | clinical testing | The c.2869G>A (p.G957R) alteration is located in exon 18 (coding exon 18) of the NOTCH1 gene. This alteration results from a G to A substitution at nucleotide position 2869, causing the glycine (G) at amino acid position 957 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |