Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000644230 | SCV000765921 | likely benign | Tuberous sclerosis 2 | 2024-01-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001014160 | SCV001174840 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-11-04 | criteria provided, single submitter | clinical testing | The p.R680L variant (also known as c.2039G>T), located in coding exon 18 of the TSC2 gene, results from a G to T substitution at nucleotide position 2039. The arginine at codon 680 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is highly 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. |
Genome- |
RCV000644230 | SCV002039611 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002282289 | SCV002571695 | uncertain significance | not provided | 2023-09-06 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Baylor Genetics | RCV003459538 | SCV004205073 | uncertain significance | Isolated focal cortical dysplasia type II | 2023-06-06 | criteria provided, single submitter | clinical testing |