Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetics and Molecular Pathology, |
RCV000680233 | SCV004175295 | likely pathogenic | Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome | 2022-09-30 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000680233 | SCV000807687 | pathogenic | Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome | 2018-09-17 | no assertion criteria provided | literature only |