Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000535473 | SCV000626474 | likely benign | Fanconi anemia | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002483362 | SCV002799807 | likely benign | Fanconi anemia complementation group D2 | 2021-08-09 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003884599 | SCV004701209 | likely benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | FANCD2: BP4, BP7 |
Prevention |
RCV003900113 | SCV004716674 | likely benign | FANCD2-related disorder | 2021-01-19 | 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). |