Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001033964 | SCV001197287 | likely benign | Mucopolysaccharidosis type 6 | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001759926 | SCV001989788 | uncertain significance | not provided | 2020-07-01 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Revvity Omics, |
RCV001033964 | SCV003825034 | uncertain significance | Mucopolysaccharidosis type 6 | 2023-08-24 | criteria provided, single submitter | clinical testing |