Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001437725 | SCV001640586 | likely benign | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | 2022-03-03 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003438795 | SCV004164255 | likely benign | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | PURA: PM2:Supporting, BP4, BP7 |