Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000145955 | SCV000193097 | benign | not specified | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002514812 | SCV001021246 | benign | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001657837 | SCV001874643 | benign | not provided | 2018-10-17 | criteria provided, single submitter | clinical testing |