Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000232042 | SCV000290515 | benign | Fanconi anemia | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001564322 | SCV001787470 | likely benign | not provided | 2020-09-08 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001820758 | SCV002067609 | benign | not specified | 2020-11-25 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003977684 | SCV004794250 | benign | FANCM-related condition | 2019-06-04 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |