Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, |
RCV000790548 | SCV000929884 | likely pathogenic | Mucopolysaccharidosis, MPS-II | 2019-01-01 | criteria provided, single submitter | literature only | PS3: Absent enzymatic activity in hemyzygote. PM2: Absent from GnomAD. PP3: Multiple lines of computational evidence supporting a deleterious effect (DANN, MutationTaster, GERP, SIFT) |