Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000697378 | SCV000825985 | likely benign | Shprintzen-Goldberg syndrome | 2024-10-26 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000697378 | SCV003823297 | uncertain significance | Shprintzen-Goldberg syndrome | 2021-03-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004822178 | SCV005496413 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2024-08-28 | criteria provided, single submitter | clinical testing | The p.T467M variant (also known as c.1400C>T), located in coding exon 4 of the SKI gene, results from a C to T substitution at nucleotide position 1400. The threonine at codon 467 is replaced by methionine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear. |