Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001263157 | SCV001441240 | uncertain significance | Amyotrophic lateral sclerosis type 4 | 2020-09-30 | criteria provided, single submitter | research | |
Invitae | RCV002530626 | SCV003006745 | likely benign | Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 2023-04-28 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV000664255 | SCV000787824 | uncertain significance | Distal spinal muscular atrophy | 2018-04-26 | no assertion criteria provided | clinical testing |