Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000822531 | SCV000963340 | benign | Tuberous sclerosis 2 | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002453897 | SCV002613481 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-03-11 | criteria provided, single submitter | clinical testing | The p.L122H variant (also known as c.365T>A), located in coding exon 4 of the TSC2 gene, results from a T to A substitution at nucleotide position 365. The leucine at codon 122 is replaced by histidine, an amino acid with similar properties. This amino acid position is poorly 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. |
Fulgent Genetics, |
RCV002495179 | SCV002804076 | uncertain significance | Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 | 2021-12-21 | criteria provided, single submitter | clinical testing |