Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, |
RCV001578557 | SCV001547695 | uncertain significance | Mucopolysaccharidosis, MPS-IV-A | 2021-02-01 | criteria provided, single submitter | curation | Located in a mutational hot spot and/or critical and well-established functional domain without benign variation (PM1_moderate); very low frequency in gnomAD v2.1.1 (PM2_moderate); multiple lines of computational evidence support a deleterious effect on the gene (PP3_supporting) |
Mendelics | RCV001578557 | SCV002516344 | likely pathogenic | Mucopolysaccharidosis, MPS-IV-A | 2022-05-04 | criteria provided, single submitter | clinical testing |