Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000593054 | SCV000707348 | uncertain significance | not provided | 2017-03-24 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000593054 | SCV001747339 | likely benign | not provided | 2022-09-01 | criteria provided, single submitter | clinical testing | EP300: BP4, BP7 |
Gene |
RCV000593054 | SCV001900347 | benign | not provided | 2019-12-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002520058 | SCV002433456 | likely benign | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 2023-11-10 | criteria provided, single submitter | clinical testing |