Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000644090 | SCV000765780 | likely benign | Tuberous sclerosis 2 | 2023-12-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002343303 | SCV002619422 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-08-22 | criteria provided, single submitter | clinical testing | The p.P1215L variant (also known as c.3644C>T), located in coding exon 30 of the TSC2 gene, results from a C to T substitution at nucleotide position 3644. The proline at codon 1215 is replaced by leucine, an amino acid with similar properties. This amino acid position is highly 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. |
Baylor Genetics | RCV003465405 | SCV004206871 | uncertain significance | Isolated focal cortical dysplasia type II | 2023-08-13 | criteria provided, single submitter | clinical testing |