Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000729073 | SCV000856709 | uncertain significance | not provided | 2018-06-19 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001078816 | SCV001053309 | likely benign | Peroxisome biogenesis disorder 7A (Zellweger); Peroxisome biogenesis disorder 7B | 2024-10-20 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003947916 | SCV004764162 | likely benign | PEX26-related disorder | 2019-10-28 | no assertion criteria provided | 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). |