Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, |
RCV001578596 | SCV001547890 | likely pathogenic | Mucopolysaccharidosis, MPS-IV-A | 2021-02-01 | criteria provided, single submitter | research | Frameshift variant (PVS1_very strong); absent from gnomAD v2.1.1 (PM2_moderate) |
Center for Genomic Medicine, |
RCV001578596 | SCV004810163 | pathogenic | Mucopolysaccharidosis, MPS-IV-A | 2024-04-04 | criteria provided, single submitter | clinical testing |