Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002542886 | SCV001686822 | likely benign | Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001277958 | SCV001464943 | uncertain significance | Cystinosis | 2020-04-19 | no assertion criteria provided | clinical testing |