Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000721141 | SCV001441230 | pathogenic | Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | 2020-09-30 | criteria provided, single submitter | research | |
Hadassah Hebrew University Medical Center | RCV000721141 | SCV004099518 | likely pathogenic | Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | criteria provided, single submitter | clinical testing | ||
OMIM | RCV000721141 | SCV000852024 | pathogenic | Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | 2018-11-08 | no assertion criteria provided | literature only |