Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, |
RCV001578533 | SCV001547870 | uncertain significance | Mucopolysaccharidosis, MPS-IV-A | 2021-02-01 | criteria provided, single submitter | curation | Absent from gnomAD v2.1.1 (PM2_moderate) |
Gene |
RCV001572328 | SCV001796946 | likely benign | not provided | 2019-09-23 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 30305043, 30809705) |