Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV000626102 | SCV000746728 | uncertain significance | Amyotrophic lateral sclerosis type 4 | 2019-04-27 | criteria provided, single submitter | clinical testing | |
Genomic Research Center, |
RCV000791025 | SCV000930291 | uncertain significance | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 2019-04-27 | criteria provided, single submitter | clinical testing | |
Northcott Neuroscience Laboratory, |
RCV000143813 | SCV000188706 | probable-pathogenic | not provided | no assertion criteria provided | not provided | Converted during submission to Likely pathogenic. | |
Inherited Neuropathy Consortium | RCV000790203 | SCV000929595 | uncertain significance | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only |