Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000965928 | SCV001113211 | likely benign | not provided | 2023-03-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000965928 | SCV002064234 | uncertain significance | not provided | 2022-01-21 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Biochemical Molecular Genetic Laboratory, |
RCV000985034 | SCV001132968 | uncertain significance | Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | 2019-08-25 | no assertion criteria provided | clinical testing |