Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000809238 | SCV000949381 | benign | Tuberous sclerosis 2 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001020182 | SCV001181625 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-05-27 | criteria provided, single submitter | clinical testing | The p.M1131T variant (also known as c.3392T>C), located in coding exon 28 of the TSC2 gene, results from a T to C substitution at nucleotide position 3392. The methionine at codon 1131 is replaced by threonine, an amino acid with similar properties. This amino acid position is 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. |
Genome- |
RCV000809238 | SCV002040768 | uncertain significance | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV001020182 | SCV002533394 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-12-28 | criteria provided, single submitter | curation | |
Fulgent Genetics, |
RCV002478879 | SCV002777435 | uncertain significance | Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 | 2021-12-21 | criteria provided, single submitter | clinical testing |