Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002547221 | SCV001098036 | likely benign | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 2023-08-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000951622 | SCV001882410 | benign | not provided | 2019-05-15 | criteria provided, single submitter | clinical testing |