Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000694273 | SCV000822709 | benign | Tuberous sclerosis 2 | 2023-10-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001020211 | SCV001181661 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-12-19 | criteria provided, single submitter | clinical testing | The p.G1134D variant (also known as c.3401G>A), located in coding exon 29 of the TSC2 gene, results from a G to A substitution at nucleotide position 3401. The glycine at codon 1134 is replaced by aspartic acid, an amino acid with similar properties. 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. |
Genome- |
RCV000694273 | SCV002040769 | uncertain significance | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing |