Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000644072 | SCV000765762 | benign | Tuberous sclerosis 2 | 2023-07-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001013270 | SCV001173837 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-03-08 | criteria provided, single submitter | clinical testing | The p.S608T variant (also known as c.1823G>C), located in coding exon 16 of the TSC2 gene, results from a G to C substitution at nucleotide position 1823. The serine at codon 608 is replaced by threonine, an amino acid with similar properties. This amino acid position is well 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. |
Genome- |
RCV000644072 | SCV002040643 | uncertain significance | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing |