Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000730019 | SCV000857726 | uncertain significance | not provided | 2017-10-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002060988 | SCV002388465 | likely benign | Peroxisome biogenesis disorder 7A (Zellweger); Peroxisome biogenesis disorder 7B | 2024-01-20 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003965517 | SCV004781233 | likely benign | PEX26-related disorder | 2020-05-27 | 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). |