Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000351038 | SCV000366885 | uncertain significance | Short rib-polydactyly syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000390897 | SCV000366886 | uncertain significance | Jeune thoracic dystrophy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000390897 | SCV003449222 | benign | Jeune thoracic dystrophy | 2023-11-13 | criteria provided, single submitter | clinical testing |