Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000470823 | SCV000558911 | benign | Fanconi anemia | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001591121 | SCV001826204 | likely benign | not provided | 2021-09-19 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 19737859) |
Genetic Services Laboratory, |
RCV001821347 | SCV002067587 | likely benign | not specified | 2021-10-11 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002257747 | SCV002527354 | likely benign | Hereditary cancer-predisposing syndrome | 2021-05-30 | criteria provided, single submitter | curation | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001821347 | SCV002774679 | benign | not specified | 2021-08-11 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004535466 | SCV004720405 | benign | FANCM-related disorder | 2019-09-18 | 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). |