Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV003332285 | SCV004039867 | pathogenic | not provided | 2023-03-29 | criteria provided, single submitter | clinical testing | Identified in a patient with clinical features of Rubinstein-Taybi syndrome in published literature (Fergelot et al., 2016); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 27648933, 32827181) |
Wessex Regional Genetics Laboratory, |
RCV001027432 | SCV001189989 | pathogenic | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 2019-11-05 | no assertion criteria provided | clinical testing |