Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000514056 | SCV000609689 | uncertain significance | not provided | 2017-09-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001080394 | SCV000645930 | benign | Spastic ataxia 2 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000514056 | SCV000722390 | likely benign | not provided | 2020-08-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000514056 | SCV000780555 | likely benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | KIF1C: BS2 |
Genome Diagnostics Laboratory, |
RCV001848880 | SCV002105284 | uncertain significance | Hereditary spastic paraplegia | 2020-09-04 | criteria provided, single submitter | clinical testing |