Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002547272 | SCV001106757 | benign | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 2023-12-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001598680 | SCV001827269 | benign | not provided | 2019-01-07 | criteria provided, single submitter | clinical testing |