Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, |
RCV000677557 | SCV000803070 | uncertain significance | Mucopolysaccharidosis type 6 | 2018-01-01 | criteria provided, single submitter | curation | Absent from GnomAD (PM2) |
OMIM | RCV000000925 | SCV000021075 | pathogenic | Mucopolysaccharidosis, type vi, intermediate | 1991-11-15 | no assertion criteria provided | literature only |