Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000393600 | SCV000364307 | uncertain significance | Spondyloepiphyseal dysplasia congenita | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000301330 | SCV000364308 | uncertain significance | Spondyloepiphyseal dysplasia with congenital joint dislocations | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000356106 | SCV000364309 | uncertain significance | Skeletal dysplasia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000261306 | SCV000364310 | uncertain significance | Larsen syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000301330 | SCV001028239 | benign | Spondyloepiphyseal dysplasia with congenital joint dislocations | 2024-01-29 | criteria provided, single submitter | clinical testing |