Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000237072 | SCV000294250 | benign | Fanconi anemia | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001820789 | SCV002071703 | likely benign | not specified | 2021-08-19 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000237072 | SCV002534238 | likely benign | Fanconi anemia | 2021-02-07 | criteria provided, single submitter | curation | |
Ce |
RCV003884430 | SCV004698464 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | FANCB: BP4, BS2 |
Prevention |
RCV003947807 | SCV004758048 | likely benign | FANCB-related condition | 2021-11-20 | 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). |