Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomic Medicine, |
RCV003494213 | SCV004242900 | likely benign | not specified | 2025-03-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004540689 | SCV004795874 | likely benign | BRIP1-related disorder | 2021-04-28 | 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). |