Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001330786 | SCV001522587 | uncertain significance | Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | 2019-10-09 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Revvity Omics, |
RCV001330786 | SCV003820487 | uncertain significance | Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | 2022-11-01 | criteria provided, single submitter | clinical testing |