Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000659698 | SCV000781545 | likely pathogenic | Kabuki syndrome 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000728366 | SCV000855925 | pathogenic | not provided | 2017-07-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000728366 | SCV002061089 | pathogenic | not provided | 2023-10-03 | criteria provided, single submitter | clinical testing | 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 in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 36253360, 35904121) |
Molekularpathologisches Zentrum, |
RCV001809735 | SCV002058109 | likely pathogenic | Lung cancer | no assertion criteria provided | research |