Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001754255 | SCV001987289 | uncertain significance | not provided | 2019-07-22 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect |
Invitae | RCV002539852 | SCV003439835 | benign | Adams-Oliver syndrome 5 | 2023-05-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004040055 | SCV004990184 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2024-03-01 | criteria provided, single submitter | clinical testing | The c.997A>C (p.S333R) alteration is located in exon 6 (coding exon 6) of the NOTCH1 gene. This alteration results from a A to C substitution at nucleotide position 997, causing the serine (S) at amino acid position 333 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |