Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002105430 | SCV002391248 | likely benign | Fanconi anemia | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003426326 | SCV004144911 | likely benign | not provided | 2024-08-01 | criteria provided, single submitter | clinical testing | SLX4: BP4, BP7 |
Prevention |
RCV003895777 | SCV004710301 | likely benign | SLX4-related disorder | 2021-04-27 | 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). |