Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Molecular Genetics |
RCV000782012 | SCV000920474 | pathogenic | not provided | 2018-01-22 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV000757898 | SCV001335391 | likely pathogenic | Global developmental delay with or without impaired intellectual development | 2022-12-19 | criteria provided, single submitter | clinical testing | Criteria applied: PVS1, PM2_Supporting |
OMIM | RCV000757898 | SCV000886408 | pathogenic | Global developmental delay with or without impaired intellectual development | 2019-02-19 | no assertion criteria provided | literature only |