Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001012194 | SCV001172617 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-09-10 | criteria provided, single submitter | clinical testing | The p.S521L variant (also known as c.1562C>T), located in coding exon 13 of the TSC1 gene, results from a C to T substitution at nucleotide position 1562. The serine at codon 521 is replaced by leucine, an amino acid with dissimilar 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. |
Invitae | RCV001219201 | SCV001391126 | likely benign | Tuberous sclerosis 1 | 2023-12-13 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001219201 | SCV002039231 | uncertain significance | Tuberous sclerosis 1 | 2021-11-07 | criteria provided, single submitter | clinical testing |