Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, |
RCV000677479 | SCV000802988 | uncertain significance | Mucopolysaccharidosis type 6 | 2018-01-01 | criteria provided, single submitter | curation | Absent from GnomAD (PM2) |
Baylor Genetics | RCV000677479 | SCV004209992 | likely pathogenic | Mucopolysaccharidosis type 6 | 2022-12-26 | criteria provided, single submitter | clinical testing |