Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000672992 | SCV000798154 | uncertain significance | Peroxisome biogenesis disorder 5A (Zellweger); Peroxisome biogenesis disorder 5B | 2018-02-28 | criteria provided, single submitter | clinical testing | |
Centogene AG - |
RCV001251181 | SCV001426537 | likely pathogenic | Peroxisome biogenesis disorder 5A (Zellweger) | criteria provided, single submitter | clinical testing | ||
Baylor Genetics | RCV001251181 | SCV004201462 | pathogenic | Peroxisome biogenesis disorder 5A (Zellweger) | 2023-10-31 | criteria provided, single submitter | clinical testing |