Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003525976 | SCV001047547 | likely benign | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 2022-11-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000903095 | SCV001834128 | benign | not provided | 2020-10-16 | criteria provided, single submitter | clinical testing |