Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000294458 | SCV000340348 | benign | not specified | 2016-04-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002519261 | SCV001021018 | benign | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001610783 | SCV001839975 | benign | not provided | 2019-06-28 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000294458 | SCV002070867 | benign | not specified | 2017-07-28 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001610783 | SCV004153132 | likely benign | not provided | 2023-07-01 | criteria provided, single submitter | clinical testing | EP300: BP4, BP7, BS2 |