Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000696781 | SCV000825358 | likely benign | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | 2023-10-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001672925 | SCV001891317 | benign | not provided | 2020-09-25 | criteria provided, single submitter | clinical testing |