Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000591121 | SCV000709621 | uncertain significance | not provided | 2018-03-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001078846 | SCV001022638 | likely benign | Peroxisome biogenesis disorder 7A (Zellweger); Peroxisome biogenesis disorder 7B | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003900359 | SCV004709833 | likely benign | PEX26-related condition | 2021-03-19 | 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). |