Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute Of Human Genetics Munich, |
RCV000578442 | SCV000680331 | likely pathogenic | Peroxisome biogenesis disorder 1A (Zellweger) | 2017-11-08 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000676109 | SCV000801852 | uncertain significance | not provided | 2017-07-26 | no assertion criteria provided | clinical testing |