Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000412254 | SCV000487563 | likely pathogenic | Peroxisome biogenesis disorder 1A (Zellweger) | 2016-04-05 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000410249 | SCV000487564 | likely pathogenic | Peroxisome biogenesis disorder 1B | 2016-04-05 | criteria provided, single submitter | clinical testing |