Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
IIFP, |
RCV000204006 | SCV000262524 | pathogenic | Mucopolysaccharidosis, MPS-II | 2010-05-17 | criteria provided, single submitter | research | |
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, |
RCV000204006 | SCV000929881 | likely pathogenic | Mucopolysaccharidosis, MPS-II | 2019-01-01 | criteria provided, single submitter | literature only | PS3: Absent enzymatic activity. PM2: Absent from GnomAD. PP5: reputable source report variant as pathogenic. |
Genome- |
RCV000204006 | SCV002014477 | likely pathogenic | Mucopolysaccharidosis, MPS-II | 2021-09-05 | criteria provided, single submitter | clinical testing |