Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001413855 | SCV001615976 | benign | Fanconi anemia | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV001413855 | SCV002529502 | likely benign | Fanconi anemia | 2020-12-08 | criteria provided, single submitter | curation | |
Fulgent Genetics, |
RCV002493974 | SCV002803492 | likely benign | Fanconi anemia complementation group D2 | 2021-11-23 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003433145 | SCV004146908 | likely benign | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | FANCD2: BP4, BP7 |
Prevention |
RCV003963307 | SCV004780260 | likely benign | FANCD2-related disorder | 2023-05-30 | 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). |