Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000721140 | SCV001135231 | likely pathogenic | Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | 2019-05-28 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000721140 | SCV000852023 | pathogenic | Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | 2018-11-08 | no assertion criteria provided | literature only |