Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000169000 | SCV000220139 | likely pathogenic | Rhizomelic chondrodysplasia punctata type 1 | 2014-03-02 | criteria provided, single submitter | literature only | |
Baylor Genetics | RCV003474894 | SCV004203898 | likely pathogenic | Peroxisome biogenesis disorder 9B | 2023-09-07 | criteria provided, single submitter | clinical testing |