Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001464862 | SCV001668838 | likely benign | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001685362 | SCV001898335 | benign | not provided | 2019-04-09 | criteria provided, single submitter | clinical testing |