Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Rare Disease Group, |
RCV000754935 | SCV000788359 | uncertain significance | Jeune thoracic dystrophy | 2018-05-01 | criteria provided, single submitter | research | |
Clinical Genetics and Genomics, |
RCV001269834 | SCV001450131 | pathogenic | not provided | 2014-11-21 | criteria provided, single submitter | clinical testing |