Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, |
RCV000790553 | SCV000929890 | likely pathogenic | Mucopolysaccharidosis, MPS-III-A | 2019-01-01 | criteria provided, single submitter | literature only | PS3: Low in vitro enzymatic activity. PM2: Absent from GnomAD |