Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000191127 | SCV000245535 | likely pathogenic | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 2013-06-05 | criteria provided, single submitter | clinical testing | Likely pathogenicity based on finding it once in our laboratory with a pathogenic variant [A1941fs] in a 51-year-old male with spinocerebellar ataxia, marked cerebellar atrophy, severe sensorineural axonal neuropathy |
Genetic Services Laboratory, |
RCV000191127 | SCV000248851 | likely pathogenic | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 2014-04-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000191127 | SCV003931281 | likely pathogenic | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 2023-02-08 | criteria provided, single submitter | clinical testing |