Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV000625910 | SCV000746492 | uncertain significance | Peroxisome biogenesis disorder 11A (Zellweger) | 2017-12-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000625910 | SCV001610715 | likely benign | Peroxisome biogenesis disorder 11A (Zellweger) | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001815420 | SCV002063868 | likely benign | not provided | 2021-12-01 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001815420 | SCV003814844 | uncertain significance | not provided | 2019-05-21 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003953101 | SCV004768615 | likely benign | PEX13-related condition | 2022-06-27 | 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). |