Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Fulgent Genetics, |
RCV001007857 | SCV005682990 | likely pathogenic | Mucopolysaccharidosis, MPS-II | 2024-02-16 | criteria provided, single submitter | clinical testing | |
| Laboratory of Diagnosis and Therapy of Lysosomal Disorders, |
RCV001007857 | SCV005089146 | pathogenic | Mucopolysaccharidosis, MPS-II | 2024-06-07 | criteria provided, single submitter | literature only | Prevalence of the variant significantly increased in affected individuals compared with controls (PS4_Moderate), Absent from controls (or at low frequency) in gnomAD database (PM2_Moderate), Missense variant in a gene with a low rate of benign missense variation (PP2_Supporting), Multiple lines of computational evidence support a deleterious effect (PP3_Supporting), Patient’s phenotype or family history highly specific for the disease (PP4_Strong) |
| Molecular Genetic Laboratory, |
RCV001007857 | SCV005906346 | benign | Mucopolysaccharidosis, MPS-II | 2025-04-09 | no assertion criteria provided | clinical testing | This variant has been detected in two males with normal biochemical levels for mucopolysaccharidosis and normal clinical phenotype. |
| Lupski Lab, |
RCV001007857 | SCV001167555 | likely pathogenic | Mucopolysaccharidosis, MPS-II | no assertion criteria provided | research |