Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001473799 | SCV001677960 | likely benign | Mucopolysaccharidosis type 6 | 2023-11-06 | criteria provided, single submitter | clinical testing | |
Laboratory of Inherited Metabolic Diseases, |
RCV001473799 | SCV002099544 | likely benign | Mucopolysaccharidosis type 6 | criteria provided, single submitter | research | Patient's mRNA analysis and minigene assay demonstrated no effect of c.783G>A on splicing. Located in-cis with c.966G>A (p.Trp322Ter) nonsense variant. |