Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000709608 | SCV000839519 | uncertain significance | Neurofibromatosis, type 2 | 2018-07-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001009764 | SCV001169869 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-08-27 | criteria provided, single submitter | clinical testing | The p.R353S variant (also known as c.1059G>C), located in coding exon 11 of the NF2 gene, results from a G to C substitution at nucleotide position 1059. The arginine at codon 353 is replaced by serine, 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- |
RCV000709608 | SCV002044877 | uncertain significance | Neurofibromatosis, type 2 | 2021-11-07 | criteria provided, single submitter | clinical testing |