Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000426555 | SCV000511652 | likely pathogenic | not provided | 2017-02-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000426555 | SCV001985562 | uncertain significance | not provided | 2019-07-13 | criteria provided, single submitter | clinical testing | Canonical splice site variant predicted to result in an in-frame deletion of a critical region; Has not been previously published as pathogenic or benign to our knowledge |
Revvity Omics, |
RCV001782900 | SCV002022649 | likely pathogenic | Microcephalic primordial dwarfism, Alazami type | 2020-11-19 | criteria provided, single submitter | clinical testing |