Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000547432 | SCV000644486 | benign | Tuberous sclerosis 2 | 2023-10-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002367881 | SCV002623628 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-09-12 | criteria provided, single submitter | clinical testing | The p.M1300T variant (also known as c.3899T>C), located in coding exon 32 of the TSC2 gene, results from a T to C substitution at nucleotide position 3899. The methionine at codon 1300 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. 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, |
RCV002483446 | SCV002787775 | uncertain significance | Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 | 2021-11-24 | criteria provided, single submitter | clinical testing |