Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001330784 | SCV001522585 | uncertain significance | Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | 2020-01-23 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Breakthrough Genomics, |
RCV004691417 | SCV005186604 | uncertain significance | not provided | criteria provided, single submitter | not provided |