Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center For Human Genetics And Laboratory Diagnostics, |
RCV000623194 | SCV000740295 | pathogenic | Autosomal recessive ataxia, Beauce type | 2017-12-11 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001311748 | SCV001502043 | pathogenic | not provided | 2020-07-01 | criteria provided, single submitter | clinical testing |