Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Revvity Omics, |
RCV001781169 | SCV002020080 | pathogenic | not provided | 2021-10-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001781169 | SCV002513081 | pathogenic | not provided | 2022-04-28 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25116135, 17159128, 23129421, 33333218, 33397523, 20301333, 19697368, 17720498, 15732101) |
OMIM | RCV000002382 | SCV000022540 | pathogenic | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 2006-12-12 | no assertion criteria provided | literature only | |
Gene |
RCV000002382 | SCV002588717 | not provided | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | no assertion provided | literature only |