Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000987791 | SCV001137244 | benign | Rhizomelic chondrodysplasia punctata type 1 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001543970 | SCV001762885 | benign | Peroxisome biogenesis disorder 9B | 2021-07-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000987791 | SCV001762886 | benign | Rhizomelic chondrodysplasia punctata type 1 | 2021-07-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001683706 | SCV001901971 | benign | not provided | 2018-06-25 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 30747064) |
Invitae | RCV001543970 | SCV003246340 | benign | Peroxisome biogenesis disorder 9B | 2024-01-12 | criteria provided, single submitter | clinical testing |