Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000865215 | SCV001006147 | likely benign | Fanconi anemia | 2025-01-15 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001274556 | SCV001458812 | uncertain significance | Fanconi anemia complementation group A | 2020-03-17 | no assertion criteria provided | clinical testing | |
Prevention |
RCV003965690 | SCV004781748 | likely benign | FANCA-related disorder | 2024-05-02 | no assertion criteria provided | 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). |