Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001021319 | SCV001182920 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-06-19 | criteria provided, single submitter | clinical testing | The p.R1289S variant (also known as c.3867G>C), located in coding exon 31 of the TSC2 gene, results from a G to C substitution at nucleotide position 3867. The arginine at codon 1289 is replaced by serine, 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 | RCV001047548 | SCV001211513 | benign | Tuberous sclerosis 2 | 2023-10-03 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001047548 | SCV002040793 | uncertain significance | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing |