Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV002244455 | SCV002513132 | uncertain significance | not provided | 2022-05-05 | 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 |
Baylor Genetics | RCV003333211 | SCV004041014 | uncertain significance | Perrault syndrome 5 | 2023-05-09 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003333209 | SCV004041046 | uncertain significance | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | 2023-05-09 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003333210 | SCV004041080 | uncertain significance | Infantile onset spinocerebellar ataxia | 2023-05-09 | criteria provided, single submitter | clinical testing |