Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000380856 | SCV000449374 | uncertain significance | Jeune thoracic dystrophy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000286504 | SCV000449375 | uncertain significance | Cranioectodermal dysplasia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002057926 | SCV002397937 | likely benign | Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 | 2023-11-27 | criteria provided, single submitter | clinical testing |