Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000145727 | SCV000192847 | uncertain significance | Rubinstein-Taybi syndrome due to CREBBP mutations | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003593917 | SCV004286599 | benign | Rubinstein-Taybi syndrome | 2023-10-16 | criteria provided, single submitter | clinical testing |