Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000790792 | SCV000229952 | pathogenic | not provided | 2013-07-30 | criteria provided, single submitter | clinical testing | |
Center for Human Genetics, |
RCV000177985 | SCV000781646 | likely pathogenic | Kabuki syndrome 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000790792 | SCV002601466 | likely pathogenic | not provided | 2022-05-10 | criteria provided, single submitter | clinical testing | 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); Has not been previously published as pathogenic or benign to our knowledge |