Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000466620 | SCV000550376 | likely benign | Shprintzen-Goldberg syndrome | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002348322 | SCV002654179 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2024-01-22 | criteria provided, single submitter | clinical testing | The c.1205G>A (p.R402Q) alteration is located in exon 3 (coding exon 3) of the SKI gene. This alteration results from a G to A substitution at nucleotide position 1205, causing the arginine (R) at amino acid position 402 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV000466620 | SCV004237297 | uncertain significance | Shprintzen-Goldberg syndrome | 2023-10-27 | criteria provided, single submitter | clinical testing |