Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001015114 | SCV001175910 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-03-06 | criteria provided, single submitter | clinical testing | The p.G8R variant (also known as c.22G>A), located in coding exon 1 of the TSC1 gene, results from a G to A substitution at nucleotide position 22. The glycine at codon 8 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. 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. |
Fulgent Genetics, |
RCV002479210 | SCV002785551 | uncertain significance | Lymphangiomyomatosis; Tuberous sclerosis 1; Isolated focal cortical dysplasia type II | 2022-03-04 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002551774 | SCV003521744 | likely benign | Tuberous sclerosis 1 | 2023-08-30 | criteria provided, single submitter | clinical testing |