Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001410809 | SCV001612861 | likely benign | Mucopolysaccharidosis, MPS-II | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002456656 | SCV002739074 | uncertain significance | Inborn genetic diseases | 2021-07-22 | criteria provided, single submitter | clinical testing | The p.T367M variant (also known as c.1100C>T), located in coding exon 8 of the IDS gene, results from a C to T substitution at nucleotide position 1100. The threonine at codon 367 is replaced by methionine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001831453 | SCV002084468 | likely benign | Mucopolysaccharidosis, MPS-III-A | 2021-09-03 | no assertion criteria provided | clinical testing |