Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000672797 | SCV000797940 | uncertain significance | Peroxisome biogenesis disorder 4A (Zellweger); Peroxisome biogenesis disorder 4B | 2018-02-15 | criteria provided, single submitter | clinical testing | |
OMIM | RCV001268931 | SCV001448181 | pathogenic | Heimler syndrome 2 | 2020-11-25 | no assertion criteria provided | literature only |