Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000630964 | SCV000751940 | likely benign | Fanconi anemia | 2023-12-02 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000630964 | SCV002535026 | likely benign | Fanconi anemia | 2021-09-20 | criteria provided, single submitter | curation | |
Prevention |
RCV003953110 | SCV004782355 | likely benign | FANCA-related condition | 2023-02-13 | 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). |