Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002064544 | SCV002430245 | likely benign | Fanconi anemia | 2021-08-12 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002064544 | SCV002529365 | likely benign | Fanconi anemia | 2021-12-25 | criteria provided, single submitter | curation | |
Prevention |
RCV003965710 | SCV004782441 | likely benign | SLX4-related disorder | 2019-08-28 | 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). |