Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000145739 | SCV000192862 | pathogenic | Rubinstein-Taybi syndrome due to CREBBP mutations | 2013-02-26 | criteria provided, single submitter | clinical testing | |
Hudson |
RCV000145739 | SCV000265547 | pathogenic | Rubinstein-Taybi syndrome due to CREBBP mutations | 2014-12-09 | criteria provided, single submitter | research | |
Gene |
RCV000255068 | SCV000321524 | pathogenic | not provided | 2023-04-26 | criteria provided, single submitter | clinical testing | Canonical splice site variant expected to result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown.; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 27165009, 31515782, 32827181) |
Diagnostic Laboratory, |
RCV001260696 | SCV001437788 | pathogenic | Intellectual disability | 2020-09-10 | criteria provided, single submitter | clinical testing | |
Daryl Scott Lab, |
RCV000145739 | SCV002072617 | pathogenic | Rubinstein-Taybi syndrome due to CREBBP mutations | 2022-01-27 | criteria provided, single submitter | clinical testing | |
Laboratory of Medical Genetics, |
RCV000145739 | SCV002760098 | pathogenic | Rubinstein-Taybi syndrome due to CREBBP mutations | 2022-11-29 | criteria provided, single submitter | research | |
Fulgent Genetics, |
RCV002498664 | SCV002813878 | pathogenic | Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 | 2022-02-07 | criteria provided, single submitter | clinical testing | |
Wessex Regional Genetics Laboratory, |
RCV000145739 | SCV000999446 | pathogenic | Rubinstein-Taybi syndrome due to CREBBP mutations | 2019-11-05 | no assertion criteria provided | clinical testing |