Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV001169951 | SCV001251785 | uncertain significance | Bone fragility with contractures, arterial rupture, and deafness | 2020-05-03 | criteria provided, single submitter | clinical testing |