Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000970645 | SCV001118235 | likely benign | Peroxisome biogenesis disorder 5A (Zellweger) | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000970645 | SCV001806113 | uncertain significance | Peroxisome biogenesis disorder 5A (Zellweger) | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001578803 | SCV001806114 | uncertain significance | Peroxisome biogenesis disorder 5B | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003905995 | SCV004721732 | likely benign | PEX2-related condition | 2023-05-11 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Natera, |
RCV001276113 | SCV001461964 | uncertain significance | Zellweger spectrum disorders | 2020-04-14 | no assertion criteria provided | clinical testing |