Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000401187 | SCV000364327 | uncertain significance | Larsen syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000314473 | SCV000364328 | uncertain significance | Skeletal dysplasia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000369182 | SCV000364329 | uncertain significance | Spondyloepiphyseal dysplasia with congenital joint dislocations | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000274955 | SCV000364330 | uncertain significance | Spondyloepiphyseal dysplasia congenita | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000369182 | SCV001036831 | benign | Spondyloepiphyseal dysplasia with congenital joint dislocations | 2023-12-30 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001579950 | SCV001809148 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001579950 | SCV001966992 | likely benign | not provided | no assertion criteria provided | clinical testing |