Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Diagnostics Division, |
RCV000782367 | SCV000920387 | uncertain significance | Thanatophoric dysplasia type 1 | 2019-01-01 | criteria provided, single submitter | research | The same individual also harbours another variant chr3:9984763_9984764delTG in CRELD1 gene |