Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, |
RCV001389838 | SCV001547784 | likely pathogenic | Mucopolysaccharidosis, MPS-IV-A | 2021-02-01 | criteria provided, single submitter | curation | Nonsense variant (PVS1_very strong); absent from gnomAD v2.1.1 (PM2_moderate) |
Invitae | RCV001389838 | SCV001591348 | pathogenic | Mucopolysaccharidosis, MPS-IV-A | 2021-08-13 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001389838 | SCV002045012 | pathogenic | Mucopolysaccharidosis, MPS-IV-A | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001389838 | SCV004236693 | pathogenic | Mucopolysaccharidosis, MPS-IV-A | 2023-07-28 | criteria provided, single submitter | clinical testing |