Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000865052 | SCV001005954 | likely benign | Fanconi anemia | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001816966 | SCV002071821 | likely benign | not specified | 2021-08-27 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003983223 | SCV004800056 | likely benign | FANCA-related condition | 2024-01-18 | 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). |