Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000191126 | SCV000245534 | pathogenic | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 2013-06-05 | criteria provided, single submitter | clinical testing | This frameshift variant is categorized as deleterious according to ACMG guidelines (PMID:18414213) and was found once in our laboratory with another variant [V2013G] in a 51-year-old male with spinocerebellar ataxia, marked cerebellar atrophy, severe sensorineural axonal neuropathy |
Genetic Services Laboratory, |
RCV000191126 | SCV000248850 | pathogenic | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 2014-04-04 | criteria provided, single submitter | clinical testing | |
Neurogenetics Research Program, |
RCV001795311 | SCV001737588 | likely pathogenic | Cerebral palsy | 2021-06-10 | criteria provided, single submitter | research | |
Genome- |
RCV000191126 | SCV003931296 | likely pathogenic | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 2023-02-08 | criteria provided, single submitter | clinical testing |