Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003077540 | SCV003462257 | likely benign | Fanconi anemia | 2023-08-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003926683 | SCV004744780 | likely benign | FANCD2-related disorder | 2019-09-17 | 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). |