Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory of Diagnosis and Therapy of Lysosomal Disorders, |
RCV000206790 | SCV005089475 | likely pathogenic | Mucopolysaccharidosis, MPS-II | 2024-06-07 | criteria provided, single submitter | literature only | 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_Moderate) |
| Genome- |
RCV000206790 | SCV002014488 | pathogenic | Mucopolysaccharidosis, MPS-II | 2021-09-05 | criteria provided, single submitter | clinical testing | |
| Ce |
RCV001092169 | SCV001248550 | pathogenic | not provided | 2018-12-01 | criteria provided, single submitter | clinical testing | |
| IIFP, |
RCV000206790 | SCV000262518 | pathogenic | Mucopolysaccharidosis, MPS-II | 2010-01-27 | criteria provided, single submitter | research |