Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001418246 | SCV001620471 | likely benign | Peroxisome biogenesis disorder 9B | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003965785 | SCV004779782 | likely benign | PEX7-related condition | 2022-10-12 | 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). |