Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000514352 | SCV000610987 | likely benign | not provided | 2017-05-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000514352 | SCV001846256 | benign | not provided | 2020-12-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002527436 | SCV002472503 | benign | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 2023-12-11 | criteria provided, single submitter | clinical testing |