Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001410751 | SCV001612802 | likely benign | Fanconi anemia | 2022-08-09 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001820106 | SCV002070788 | uncertain significance | not specified | 2019-06-11 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003963300 | SCV004779717 | likely benign | FANCD2-related disorder | 2022-05-17 | 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). |