Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001444334 | SCV001647331 | likely benign | Fanconi anemia | 2023-10-13 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003900526 | SCV004715140 | likely benign | FANCA-related disorder | 2022-10-26 | 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). |
Natera, |
RCV001444334 | SCV002092642 | likely benign | Fanconi anemia | 2021-08-18 | no assertion criteria provided | clinical testing |