Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetics Laboratory, |
RCV001420346 | SCV001622766 | likely pathogenic | See cases | 2021-04-26 | criteria provided, single submitter | clinical testing | PVS1_strong;PM2_supporting;PM6_moderate |
Wessex Regional Genetics Laboratory, |
RCV000856886 | SCV000999486 | pathogenic | Rubinstein-Taybi syndrome due to CREBBP mutations | 2019-11-05 | no assertion criteria provided | clinical testing |