Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000177194 | SCV000229030 | benign | not specified | 2014-11-18 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000327879 | SCV000364291 | uncertain significance | Larsen syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000366162 | SCV000364292 | uncertain significance | Spondyloepiphyseal dysplasia congenita | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000274026 | SCV000364293 | uncertain significance | Spondyloepiphyseal dysplasia with congenital joint dislocations | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000331444 | SCV000364294 | uncertain significance | Skeletal dysplasia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000274026 | SCV001027601 | benign | Spondyloepiphyseal dysplasia with congenital joint dislocations | 2024-01-29 | criteria provided, single submitter | clinical testing |