Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomic Medicine, |
RCV000224653 | SCV004810329 | uncertain significance | Spondyloepimetaphyseal dysplasia, Genevieve type | 2024-04-04 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000224653 | SCV000280596 | pathogenic | Spondyloepimetaphyseal dysplasia, Genevieve type | 2017-06-20 | no assertion criteria provided | literature only |