Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001719001 | SCV000724773 | likely benign | not provided | 2020-04-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000644119 | SCV000765809 | likely benign | Tuberous sclerosis 2 | 2023-11-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001010952 | SCV001171218 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-10-22 | criteria provided, single submitter | clinical testing | The p.L448V variant (also known as c.1342C>G), located in coding exon 12 of the TSC2 gene, results from a C to G substitution at nucleotide position 1342. The leucine at codon 448 is replaced by valine, an amino acid with highly similar properties. This amino acid position is highly 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- |
RCV000644119 | SCV002039535 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV001010952 | SCV002532774 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-04-30 | criteria provided, single submitter | curation |