Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002520056 | SCV000770217 | benign | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001672613 | SCV001886657 | benign | not provided | 2019-05-13 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001672613 | SCV004153122 | benign | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | EP300: BP4, BP7, BS1, BS2 |