Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000513269 | SCV000608636 | uncertain significance | not provided | 2017-06-01 | criteria provided, single submitter | clinical testing | |
Department of Human Genetics, |
RCV001201337 | SCV001372227 | likely benign | not specified | 2020-07-09 | criteria provided, single submitter | clinical testing | For this variant in-silico prediction yielded a consistent neutral prediction on the gene function (PB4). The variant was found to be inherited by the unaffected father of the index patient (BS2). |