Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Dept Of Ophthalmology, |
RCV003890808 | SCV004705603 | uncertain significance | Retinal dystrophy | 2023-10-01 | criteria provided, single submitter | research | |
Prevention |
RCV003949101 | SCV004758576 | likely benign | IMPG2-related disorder | 2019-02-21 | 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). |