Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Sema4, |
RCV002258445 | SCV002529479 | uncertain significance | Fanconi anemia | 2022-01-02 | criteria provided, single submitter | curation | |
Invitae | RCV002258445 | SCV004472946 | likely benign | Fanconi anemia | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003943329 | SCV004768783 | likely benign | FANCD2-related disorder | 2020-01-08 | 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). |