Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001012096 | SCV001172509 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-12-04 | criteria provided, single submitter | clinical testing | The p.G518V variant (also known as c.1553G>T), located in coding exon 14 of the TSC2 gene, results from a G to T substitution at nucleotide position 1553. The glycine at codon 518 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Invitae | RCV001056422 | SCV001220865 | benign | Tuberous sclerosis 2 | 2023-07-25 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001056422 | SCV002040617 | uncertain significance | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing |