Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001500229 | SCV001705012 | likely benign | Peroxisome biogenesis disorder | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004550264 | SCV004757723 | likely benign | PEX6-related disorder | 2020-03-20 | 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, |
RCV001826343 | SCV002077347 | likely benign | Zellweger spectrum disorders | 2021-07-29 | no assertion criteria provided | clinical testing |