Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000353502 | SCV000449382 | uncertain significance | Jeune thoracic dystrophy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000401556 | SCV000449383 | uncertain significance | Cranioectodermal dysplasia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000878418 | SCV001021321 | benign | Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002278577 | SCV002567152 | uncertain significance | Connective tissue disorder | 2019-05-01 | criteria provided, single submitter | clinical testing |