Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000223317 | SCV000275693 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-08-02 | criteria provided, single submitter | clinical testing | The p.P727L variant (also known as c.2180C>T), located in coding exon 19 of the TSC2 gene, results from a C to T substitution at nucleotide position 2180. The proline at codon 727 is replaced by leucine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Labcorp Genetics |
RCV001216217 | SCV001388003 | benign | Tuberous sclerosis 2 | 2023-09-22 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001216217 | SCV002040684 | uncertain significance | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing |