Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000924192 | SCV001069700 | likely benign | Mucopolysaccharidosis, MPS-II | 2023-12-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002382093 | SCV002698026 | uncertain significance | Inborn genetic diseases | 2018-09-15 | criteria provided, single submitter | clinical testing | The p.R458C variant (also known as c.1372C>T), located in coding exon 9 of the IDS gene, results from a C to T substitution at nucleotide position 1372. The arginine at codon 458 is replaced by cysteine, an amino acid with highly 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Natera, |
RCV000924192 | SCV001462902 | likely benign | Mucopolysaccharidosis, MPS-II | 2020-09-16 | no assertion criteria provided | clinical testing |