Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000571394 | SCV000675697 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-11-23 | criteria provided, single submitter | clinical testing | The p.P874L variant (also known as c.2621C>T), located in coding exon 22 of the TSC2 gene, results from a C to T substitution at nucleotide position 2621. The proline at codon 874 is replaced by leucine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Invitae | RCV001047205 | SCV001211145 | likely benign | Tuberous sclerosis 2 | 2023-04-24 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001047205 | SCV002040712 | uncertain significance | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing |