Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000232279 | SCV000291165 | likely benign | Fanconi anemia | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Genomic Diagnostic Laboratory, |
RCV000238670 | SCV000297344 | uncertain significance | not specified | 2015-08-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000232279 | SCV002531767 | likely benign | Fanconi anemia | 2021-03-28 | criteria provided, single submitter | curation | |
Gene |
RCV002274950 | SCV002562353 | uncertain significance | not provided | 2023-05-19 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Prevention |
RCV003967666 | SCV004782866 | likely benign | FANCD2-related disorder | 2022-09-23 | 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). |