Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV000501829 | SCV000590924 | likely benign | Mucopolysaccharidosis, MPS-II | 2023-11-06 | criteria provided, single submitter | clinical testing | |
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, |
RCV000501829 | SCV005089434 | 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), Patient’s phenotype or family history highly specific for the disease (PP4_Strong) |