Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000230307 | SCV000290512 | benign | Fanconi anemia | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000503092 | SCV000594739 | benign | not specified | 2020-11-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001706272 | SCV001820238 | likely benign | not provided | 2021-09-09 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000503092 | SCV002774645 | benign | not specified | 2021-07-24 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004541449 | SCV004787797 | benign | FANCM-related disorder | 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). |