Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000808462 | SCV000948571 | benign | Tuberous sclerosis 2 | 2023-08-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002440730 | SCV002751880 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-05-05 | criteria provided, single submitter | clinical testing | The p.E968D variant (also known as c.2904G>C), located in coding exon 25 of the TSC2 gene, results from a G to C substitution at nucleotide position 2904. The glutamic acid at codon 968 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is not well 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, |
RCV002487740 | SCV002801442 | uncertain significance | Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 | 2022-03-17 | criteria provided, single submitter | clinical testing |