Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, |
RCV001358675 | SCV001547875 | pathogenic | Mucopolysaccharidosis, MPS-IV-A | 2021-02-01 | criteria provided, single submitter | curation | Nonsense variant (PVS1_very strong); the prevalence of the variant in affected individuals is significantly increased compared with the prevalence in controls (PS4_moderate); very low frequency in gnomAD v2.1.1 (PM2_moderate) |
Centre for Inherited Metabolic Diseases, |
RCV001358675 | SCV001554472 | pathogenic | Mucopolysaccharidosis, MPS-IV-A | 2021-04-07 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001358675 | SCV002045003 | pathogenic | Mucopolysaccharidosis, MPS-IV-A | 2021-11-07 | criteria provided, single submitter | clinical testing |