Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, |
RCV000790555 | SCV000929896 | uncertain significance | Mucopolysaccharidosis, MPS-III-A | 2019-01-01 | criteria provided, single submitter | literature only | PM2: Very low frequency in ExAc. PP3:multiple lines of computational evidence supporting a deleterious effect (DANN, MutationTaster, GERP, SIFT) |
Genome- |
RCV000790555 | SCV002045450 | uncertain significance | Mucopolysaccharidosis, MPS-III-A | 2021-11-07 | criteria provided, single submitter | clinical testing |