Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000973897 | SCV001121686 | likely benign | Peroxisome biogenesis disorder 2B | 2023-11-24 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003962909 | SCV004782525 | likely benign | PEX5-related condition | 2019-10-15 | 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). |