Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, |
RCV001261588 | SCV001547966 | uncertain significance | Mucopolysaccharidosis, MPS-IV-A | 2021-02-01 | criteria provided, single submitter | curation | Absent from gnomAD v2.1.1 (PM2_moderate); protein length changes as a result of in-frame deletions/insertions in a nonrepeat region or stop-loss variants (PM4_moderate) |
Fulgent Genetics, |
RCV001261588 | SCV005641456 | likely pathogenic | Mucopolysaccharidosis, MPS-IV-A | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Pathology and Clinical Laboratory Medicine, |
RCV001261588 | SCV001438857 | pathogenic | Mucopolysaccharidosis, MPS-IV-A | no assertion criteria provided | clinical testing |