Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center For Human Genetics And Laboratory Diagnostics, |
RCV000735235 | SCV000863444 | pathogenic | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 2018-07-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002509527 | SCV002818777 | pathogenic | not provided | 2022-07-05 | criteria provided, single submitter | clinical testing | Identified in an individual with a neurodevelopmental disorder, but segregation and detailed clinical information was not provided (Wang et al., 2020); Nonsense 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: 33004838) |