Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000571543 | SCV000674158 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-11-19 | criteria provided, single submitter | clinical testing | The p.P482R variant (also known as c.1445C>G), located in coding exon 13 of the NF2 gene, results from a C to G substitution at nucleotide position 1445. The proline at codon 482 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear. |
Labcorp Genetics |
RCV001048459 | SCV001212466 | likely benign | Neurofibromatosis, type 2 | 2025-01-14 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001048459 | SCV002044891 | uncertain significance | Neurofibromatosis, type 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV001048459 | SCV004821916 | likely benign | Neurofibromatosis, type 2 | 2023-08-14 | criteria provided, single submitter | clinical testing |