Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002128494 | SCV002455447 | likely benign | Peroxisome biogenesis disorder | 2023-09-26 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003933583 | SCV004756245 | likely benign | PEX16-related disorder | 2019-05-30 | 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). |