Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Medicine Lab, |
RCV001376025 | SCV001573036 | pathogenic | Thanatophoric dysplasia type 1 | 2020-08-27 | criteria provided, single submitter | clinical testing |