Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, |
RCV000677591 | SCV000803108 | pathogenic | Mucopolysaccharidosis type 6 | 2018-01-01 | criteria provided, single submitter | curation | Frameshift variant (PVS1); Absent from GnomAD (PM2);Reputable source identifies as pathogenic (PP5) |
Baylor Genetics | RCV000677591 | SCV004209803 | pathogenic | Mucopolysaccharidosis type 6 | 2023-05-31 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000000930 | SCV000021080 | pathogenic | Mucopolysaccharidosis, type vi, severe | 1996-01-01 | no assertion criteria provided | literature only |