Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001770790 | SCV001992837 | uncertain significance | not provided | 2019-06-24 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV002032856 | SCV002277036 | likely benign | Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 | 2023-08-24 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002032856 | SCV002776083 | uncertain significance | Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 | 2021-12-16 | criteria provided, single submitter | clinical testing |