Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000544493 | SCV000644417 | likely benign | Tuberous sclerosis 2 | 2023-12-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002316560 | SCV000851628 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-07-12 | criteria provided, single submitter | clinical testing | The p.P1098R variant (also known as c.3293C>G), located in coding exon 28 of the TSC2 gene, results from a C to G substitution at nucleotide position 3293. The proline at codon 1098 is replaced by arginine, an amino acid with dissimilar 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- |
RCV000544493 | SCV002039730 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing |