Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000349532 | SCV000342198 | likely benign | not specified | 2016-05-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000884934 | SCV001028344 | likely benign | Peroxisome biogenesis disorder 5A (Zellweger) | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003430823 | SCV004155969 | likely benign | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | PEX2: BP4, BP7 |
Prevention |
RCV003949912 | SCV004758766 | likely benign | PEX2-related condition | 2020-08-25 | 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). |