Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001704360 | SCV000528688 | likely benign | not provided | 2019-01-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002063368 | SCV002362387 | likely benign | Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 | 2024-01-21 | criteria provided, single submitter | clinical testing |